Mckusick kaufman syndrome treatment

McKusick-Kaufman syndrome: MedlinePlus Genetic

  1. McKusick-Kaufman syndrome is a condition that affects the development of the hands and feet, heart, and reproductive system. It is characterized by a combination of three features: extra fingers and/or toes (polydactyly), heart defects, and genital abnormalities.Most females with McKusick-Kaufman syndrome are born with a genital abnormality called hydrometrocolpos, which is a large.
  2. Mc Kusick-Kaufman Syndrome (SMK) is an autosomal recessive multiple malformation Syndrome characterized by hydrometrocolpos and polydactyly. This Syndrome is more frequent in females, whose parents are first-degree cousins (frequency 1:8 liveborn). We describe two cases of SMK: a male and a female.
  3. McKusick-Kaufman syndrome is characterized by the triad of hydrometrocolpos, postaxial polydactyly and congenital heart disease (1-4). This condition was first described in the Amish population [1]. Pyometrocolpos which is a serious complication calls for early and rapid evaluation and treatment of these patients. Hydrometrocolpos secondary.
  4. Hydrometrocolpos has been reported after prenatal dexamethasone treatment for congenital adrenal hyperplasia 40 or in association with ambiguous genitalia in 45,X/46,XY mosaicism. 41 The combination of hydrocolpos, polydactyly, and a congenital heart defect is known as McKusick-Kaufman syndrome. 42 Persistent urogenital sinus is associated with.
  5. NIH GARD Information: McKusick Kaufman syndrome. This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD). care facility and thus can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments. Patients must rely on the personal and.
  6. A Newborn with Rare McKusick Syndrome. Halim A(1), Afzal T(1), Fatima S(1), Riaz S(1). Author information: (1)Department of Neonatology, Children Hospital, PIMS, Islamabad. McKusick-Kaufman Syndrome (MKKS) is one of rare syndromes which presents as polydactyly, hydrometrocolpos (HMC) and cardiac anomalies

[McKusick-Kaufman syndrome: diagnostic and therapeutic

Mckusick-kaufman syndrome: diagnosis and management

The McKusick-Kaufman syndrome is an allelic form of BBS. It was initially thought to be a classic autosomal-recessive disorder, but the genetics of BBS turn out to be much more complex, with at least 15 different genes now identified as being associated with this syndrome (350,351) McKusick-Kaufman syndrome is a genetic condition associated with MKKS.. The condition is named for Dr. Robert L. Kaufman and Victor McKusick. It is sometimes known by the abbreviation MKS. In infancy it can be difficult to distinguish between MKS and the related Bardet-Biedl syndrome, as the more severe symptoms of the latter condition rarely materialise before adulthood McKusick-Kaufman syndrome (MKKS) is a rare, recessively inherited syndrome reported mainly in young children and is characterised by vaginal atresia with hydrometrocolpos, postaxial polydactyly. McKusick-Kaufman syndrome (MKKS, MIM 236700) is a human developmental anomaly syndrome comprising hydrometrocolpos (HMC), postaxial polydactyly (PAP) and congenital heart disease (CHD) McKusick-Kaufman syndromeDefinitionThe McKusick-Kaufman syndrome (MKS) is a developmental disorder characterized by a group of conditions that include congenital heart disease, buildup of fluid in the female reproductive tract and extra toes and fingers. Source for information on McKusick-Kaufman syndrome: Gale Encyclopedia of Genetic Disorders dictionary

McKusick-Kaufman syndrome: A genetic disorder in which there is build-up of fluids (called hydrometrocolpos) in the vagina and the uterus as a result of a membrane across the vagina which holds back the cervical fluid secreted in response to the mother's hormones during pregnancy.Boys with this disease have the opening for urine on the underside of the penis (hypospadias) McKusick-Kaufman Syndrome is a rare developmental disorder characterized by extra fingers and/or toes, heart defects, and genital abnormalities. Acknowledgement Acknowledgement of McKusick-Kaufman Syndrome has not been added yet Syndrome, McKusick-Kaufman: A genetic disorder in which there is build-up of fluids (called hydrometrocolpos) in the vagina and the uterus as a result of a membrane across the vagina which holds back the cervical fluid secreted in response to the mother's hormones during pregnancy.Boys with this disease have the opening for urine on the underside of the penis (hypospadias)

McKusick Kaufman Syndrome - an overview ScienceDirect Topic

McKusick Kaufman syndrome (MKS) is an autosomal recessive multiple malformation syndrome primarily characterized by. hydrometrocolpos - vaginal atresia. post-axial polydactyly. congenital heart disease Retinitis pigmentosa, obesity and mental retardation in Bardet-Biedl syndrome does not develop until children are 5 years old. So children initially diagnosed with McKusick-Kaufman syndrome should be followed up. Both syndromes are transmitted by an autosomal recessive pattern, and parents should be counselled accordingly. 1 A cloacal malformation often accompanies this disorder, which is the surgical treatment that incorporates several vaginal replacement techniques. This disorder is caused by an implication in the WNT4 protein coding gene, which is found on the short arm (p) of chromosome 1 McKusick-Kaufman syndrome associated with esophageal atresia and distal tracheoesophageal fistula: a case report and review of the literature. Pul N , Pul M , Gedik Y Am J Med Genet , 49(3):341-343, 01 Feb 199

McKusick-Kaufman syndrome Disease definition A rare, genetic multiple congenital anomalies syndrome characterized by genitourinary malformations (hydrometrocolpos in females and in males, glanular hypospadias and prominent scrotal raphe) , postaxial polydactyly that may affect only one or several limbs, and to a lesser extent cardiac defects • Six cases of the McKusick-Kaufman syndrome (MKS), including two cases that were diagnosed prenatally, were studied. Review of the 54 previously described cases indicates that postaxial polydactyly and hydrometrocolpos in female patients are the hallmark features of this entity. Other.. McKusick-Kaufman Syndrome (MKS) was first described in 1964 as an autosomal recessive disorder with variable expression in an Amish population. 1 The cardinal features of this developmental.

McKusick Kaufman syndrome - NORD (National Organization

McKusick-Kaufman Syndrome (MSK) MSK is a condition associated with polydactyly, heart, genital and urinary anatomy abnormalities. Female patients may have an absent vaginal with mucoid accumulations identifiable within an intact uterus within the abdomen. They may alternatively have a double vaginal or uterine structures McKusick-Kaufman syndrome involves heart defects, genital abnormalities, Treatment for polydactyly depends on how and where the extra digit is connected to the hand or foot. In most cases, the. Others are Jeune syndrome and McKusick Kaufman syndrome. What is the Treatment of Ellis van-Creveld syndrome? The treatment of EVC syndrome is supportive. A close watch during the first month after birth is required to manage symptoms due to the narrow chest and heart defects. Regular follow up with the dentist is required to deal with dental. Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive genetic disorder that can lead to dysfunction of multiple organ systems, including the kidneys, genitalia, brain, and eye. Etiology BBS is caused by mutations of proteins involved in function of the cilium, a specialized cellular organelle common to many specialized cell types. McKusick-Kaufman syndrome is a rare autosomal recessive disease diagnosed by polydactyly, hydrometrocolpos, and congenital heart disease. We present an unusual laparotomy confirmed urogenital MRI finding (atretic vaginal pouch) in a 3-month-old girl with McKusick-Kaufman syndrome

A Newborn with Rare McKusick Syndrome

A case of McKusick-Kaufman Syndrome

  1. McKusick-Kaufman syndrome is characterized by the triad of hydrometrocolpos, postaxial polydactyly and congenital heart disease (1-4). This condition was first described in the Amish population [1]. Hydrometrocolpos is present in 80-95% of females; postaxial polydactyly is present in 90% of patients; and congenital heart diseases have been.
  2. Saethre-Chotzen syndrome involves a double first toe and syndactyly between the second and third fingers. Bardet-Beidl syndrome is associated with polydactyly and syndactyly in the fingers and toes. McKusick-Kaufman syndrome involves heart defects, genital abnormalities, and polydactyly. Cornelia de Lange syndrome involves developmental disorders
  3. McKusick-Kaufman syndrome (MKKS) is a rare, recessively inherited syndrome reported mainly in young children and is characterised by vaginal atresia with hydrometrocolpos, postaxial polydactyly, and congenital heart defect. Bardet-Biedl syndrome (BBS) is the generic name for a genetically heterogeneous group of autosomal recessive disorders characterised by retinal dystrophy or retinitis.
  4. initially diagnosed with McKusick-Kaufman syndrome should be followed up. Both syndromes are transmitted by an autosomal recessive pattern, and parents should be counselled accordingly. 1 TREATMENT After birth, a cystoscopy was performed by the pediatric surgeons. The diagnosis was a urogenital sinus and vagi-nal atresia. A catheter was.
  5. Mast syndrome AR 248900 OH(H) McKusick-Kaufman syndrome AR 236700 OH/PA Muscular dystrophy, limb-girdle type AR 253600 IN/PA Nanophthalmos, familial AR 251600 NR Oculocerebral syndrome with hypopigmentation AR 257800 Renal-retinal dysplasia AR 266900 Troyer syndrome AR 275900 OH(H) Weill-Marchesani syndrome AR 277600 PA(L
  6. Imperforate hymen can present as part of a syndrome, such as McKusick-Kaufman syndrome, characterized by polydactyly, congenital heart disease, and hydrometrocolpos in females. The hydrometromolpos can be caused by any obstructive anomaly of the female genital tract, including imperforate hymen or other anomalies, such as vaginal agenesis or.

McKusick-Kaufman syndrome, Bardet-Biedl syndrome, , McKusick-Kaufman syndrome is an autosomal recessive emales r cervical nopelvic ephrosis us. In males, gential abnormalities. Postaxial polydactyly, mesoaxial polydactyly (rarely), or syndactyly is present in 90% of cases. Developmenta Abstract: McKusick-Kaufman syndrome is a rare syndrome inherited in an autosomal recessive pattern with a phenotypic triad comprising hydrometrocolpos, postaxial polydactyly and congenital cardiac disease. The syndrome is caused by mutations in the MKKS gene mapped onto chromosome 20p12. Diagnosis of this syndrome is based on clinical and imaging findings McKusick-Kaufman syndrome: postaxial 5; megalencephaly, polymicrogyria, Treatment and prognosis. If it is an isolated anomaly it is incidental and not of concern but if associated with another anomaly it then carries a vastly variable prognosis dependent on the rest of the syndrome Entry name i: B7Z3W9_HUMAN: Accession i: B7Z3W9 Primary (citable) accession number: B7Z3W9: Entry history i: Integrated into UniProtKB/TrEMBL: : March 3, 2009: Last sequence update: : March 3, 2009: Last modified: : October 7, 2020: This is version 60 of the entry and version 1 of the sequence. See complete history.: Entry status i: Unreviewed (UniProtKB/TrEMBL): Disclaimer: Any medical or.

McKusick-Kaufman syndrome (MKKS) is a rare, recessively inherited syndrome reported mainly in young children and is characterised by vaginal atresia with hydrometrocolpos, postaxial polydactyly, and congenital heart defect. Bardet-Biedl syndrome (BBS) is the generic name for a genetically heterogeneous group of auto-somal recessive disorders. There are many rare genetic syndromes linked to polydactyly, which include down syndrome, Greig syndrome, carpenter syndrome, triphalangeal thumb-polydactyly syndrome, syndactyly, acrocephalosyndactyly, Saethre-Chotzen syndrome, McKusick-Kaufman syndrome, Bardet-Beidl syndrome, short-rib polydactyly, and Pallister-Hall syndrome Introduction . Neonatal hydrocolpos is a rare condition. Hydrocolpos is cystic dilatation of the vagina with fluid accumulation due to a combination of stimulation of secretary glands of the reproductive tract and vaginal obstruction. The differential for a neonatal presentation of lower abdominal mass includes urogenital anomalies, Hirschsprung's, disease or sacrococcygeal teratoma

Recurrent Urinary Tract Infections in a Female Child With

There are several genetic syndromes that have been identified with vaginal atresia as a commonly associated malformation. McKusick-Kaufman syndrome (MKKS) and Bardet-Biedl syndrome (BBS) are two autosomal recessive syndromes with significant overlap which have been associated with vaginal agenesis. Gonadal dysgenesis [32, 33 Pallister-Hall syndrome Definition. Pallister-Hall syndrome is an extremely rare developmental disorder marked by a spectrum of features ranging from mild (extra fingers or toes or a non-cancerous malformation in the hypothalamus region of the brain) to severe (laryngotracheal cleft, an opening between the windpipe and voicebox that can cause death in newborns) In other populations, it is more often associated with a syndrome of multiple congenital anomalies or chromosomal defects. Among the syndromes to be considered are Greig cephalopolysyndactyly syndrome, Meckel syndrome, Ellis-van Creveld syndrome, McKusick-Kaufman syndrome, Down syndrome, and Bardet-Biedl syndrome

Over the past 20 years, the laboratory has performed clinical and molecular delineation of a host of disorders, including malformation syndromes, such as Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome, McKusick-Kaufman syndrome, Lenz microphthalmia syndrome, oculofaciocardiodigital syndrome and others; and overgrowth disorders. Valid for Submission. Q87.89 is a billable diagnosis code used to specify a medical diagnosis of other specified congenital malformation syndromes, not elsewhere classified. The code Q87.89 is valid during the fiscal year 2021 from October 01, 2020 through September 30, 2021 for the submission of HIPAA-covered transactions Performed by urologists and paediatric surgeons, hypospadias procedures go unnoticed in many classical treatises of plastic surgery. Hypospadias is a very common malformation that occurs in nearly 1 in 250 male births. It consists of an abnormal opening of the urethral meatus at some point of its dorsal aspect. It is associated with an incomplete, semi‐circumferential foreskin and in nearly. Literature citations. MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis Associated syndromes include Bardet-Biedl syndrome, chondroectodermal dysplasia (Ellis-van Creveld syndrome), Greig cephalopolysyndactyly syndrome, McKusick-Kaufman syndrome, Pallister-Hall syndrome, trisomy 13, trisomy 21, and Weyers acrofacial dysostosis [consultant360.com

Developed by renowned radiologists in each specialty, STATdx provides comprehensive decision support you can rely on - Hydrometrocolpo Polydactyly consists of poly that means many and dactylos, which means digits. Polydactyly, also known as hyperdactyly, is the most common congenital anomaly of hand and foot. It is characterized by an extra finger or toe that may results from defective development during anterior-posterior patterning of developing limb Treatment Antihypertensives, Life style management [4] Polycystic kidney disease ( PKD or PCKD , also known as polycystic kidney syndrome ) is a genetic disorder in which the renal tubules become structurally abnormal, resulting in the development and growth of multiple cysts within the kidney. [5 McKusick Kaufman syndrome is a rare autosomal recessive disorder which presents with multiple congenital abnormalities affecting cardiovascular, genitourinary systems with limb anomalies. Treatment of the genito-urinary abnormalities could be carried out primarily or as staged procedures. In this case a primary vaginostomy was done to. LMS, like McKusick-Kaufman syndrome, may therefore be another variant of BBS but, as no genetic tests were conducted on the initial LMS patients, the relationship between these diseases remains unclear. Genetic counseling The syndrome is transmitted as an autosomal recessive trait. Management and treatment

Author summary To understand how mutations in one gene can cause two distinct human syndromes (McKusick-Kaufman syndrome and Bardet-Bield syndrome), we investigated the cellular functions of the implicated gene BBS6. We found that BBS6 is actively transported between the cytoplasm and nucleus, and this interaction is disrupted in McKusick-Kaufman syndrome, but not Bardet-Biedl syndrome treatment and patient-reported outcomes up to adulthood complications of short bowel syndrome (2), intestinal or liver-intestinaltransplantation(1)orassociatedsyndromes McKusick-Kaufman syndrome 1 (0⋅9) Kabuki syndrome 1(0⋅9) Concomitant malformation 19 (17⋅6 Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care. Expasy is operated by the SIB Swiss Institute of Bioinformatics. Slavotinek AM, Biesecker LG: Phenotypic overlap of McKusick-Kaufman syndrome with Bardet-Biedl syndrome: A literature review, Am J Med Genet 95:208, 2000. Beales PL, et al: Genetic interaction of BBS1 mutations with other alleles at other BBS loci can result in non-mendelian Bardet-Biedl syndrome, Am J Hum Genet 72:1187, 2003 Dr. Biesecker's group studies several multiple anomaly syndromes, including Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome, McKusick-Kaufman syndrome, Bardet-Biedl syndrome, oral-facial-digital syndrome, Lenz microphthalmia syndrome, Proteus syndrome, and non-syndromic polydactyly

Also known polythelia or an accessory or third nipple, supernumerary nipples are very commonly mistaken for moles. This fairly common, minor congenital condition usually presents as small, ill. Single mutant genes are responsible for the McKusick-Kaufman syndrome and the hand-foot-genital syndrome. 3 Hand-foot-genital syndrome is a rare, dominantly inherited condition that affects both the distal limbs and the genitourinary tract

MKKS - McKusick-Kaufman/Bardet-Biedl syndromes putative

Mouse and human mutations affecting ciliary hedgehog signaling, including genes important for syndromic ciliopathies such as MKS1 (Meckel-Gruber syndrome type 1, Bardet-Biedl syndrome type 13), 250 MKKS (Bardet-Biedl syndrome type 6, McKusick-Kaufman syndrome), 258 and EVC and EVC2 (Ellis-van Creveld syndrome) 123,259,260 lead to. Victor McKusick, in full Victor Almon McKusick, (born Oct. 21, 1921, Parkman, Maine, U.S.—died July 22, 2008, Baltimore, Md.), American physician and genome researcher who pioneered the field of medical genetics.. McKusick was raised on a dairy farm in Maine. He attended Tufts University (1940-43) in Medford, Mass., before transferring to Johns Hopkins University School of Medicine (M.D. Poland's syndrome or central deficiency), or abnormal bony elements (such as hypoplasia). Treatment must be individualized. Beware of neurovascular anomalies. Urgent (SSu) Soft tissue syndactyly of borders digits or digits of unequal length, girth, or joint level. Requires early separation to prevent angular and rotational deformity of.

McKusick Kaufman syndrome - CheckOrpha

  1. A differential diagnosis is when a disease is compared to other diseases with similar signs and symptoms so as to be able to distinguish between them. In the case of Ellis-van Creveld, the differential diagnoses include Jeune dystrophy, McKusick-Kaufman syndrome, and Weyers syndrome
  2. gton, DE 19899 (302) 651-5986 (302) 651-5990 fa
  3. David A, Bitoun P, Lacombe D, et al. Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes. J Med Genet . 1999;36(8):599-603
  4. mutated form of BBS6, found in McKusick-Kaufman syndrome patients, disrupts other proteins which regulate gene expression, thereby causing the symptoms observed in McKusick-Kaufman syndrome patients. This work is the first report of the underlying disease-mechanism present in McKusick-Kaufman syndrome patients
  5. The genetic sequencing study showed that the fetus was a carrier of the McKusick-Kaufman syndrome (MKKS) gene mutation p.Val291Phe and a presumably pathogenic variant of the same gene, p.SEr236*, both in heterozygosis. This result indicated that the fetus might be affected by either MKKS or BBS
  6. Treatment There is no specifi c treatment for BBS. The prognosis is poor when renal failure occurs. Prophylactic measures. The genetic counseling - McKusick-Kaufman syndrome (MKKS) is a genetic condition involving polydactyly, congenital heart disease and genital abnormalities (9,10); th
  7. Basal cell nevus syndrome. Bardet-Biedl syndrome. Biemond syndrome. Ectrodactyly-ectodermal dysplasias-cleft lip/palate syndrome. Ellis van Creveld syndrome. McKusick-Kaufman syndrome. Mirror hand deformity (ulnar dimelia) [ 14] Mohr syndrome. Oral-facial-digital syndrome

Called McKusick-Kaufman syndrome, or MKS, the condition is the first human disorder to be attributed to a mutation in a gene affecting a type of molecule called a chaperonin, the researchers. McKusick Kaufman Syndrome . McKusick Kaufman syndrome (MKKS; MIM ID#236700) is a rare autosomal recessive disorder characterized by the triad postaxial polydactyly, hydrometrocolpos with vaginal atresia or imperforate hymen and congenital heart disease. In males affected, MKKS syndrome can manifest with hypospadias or cryptorchidism Advances in the understanding of the BBSome complex structure and function Victor Hernandez-Hernandez, Dagan JenkinsGenetics and Genomic Medicine Programme, UCL Institute of Child Health, London, UKAbstract: Bardet-Biedl syndrome (BBS) is an autosomal recessive condition characterized by important clinical features, including obesity, blindness, renal cystic disease, and intellectual disability McKusick-Kaufman syndrome (MKS) is an autosomal recessive multiple malformation syndrome characterized by Mόllerian anomalies with hydrometrocolpos (HMC) and postaxial polydactyly (PAP). We report a case of a female newborn that developed hydronephrosis and respiratory distress due to compression of the cystic mass and underwent surgery on. Differential diagnosis includes isolated vaginal atresia, which is found in various syndromes such as McKusick-Kaufman syndrome, androgen insensitivity syndrome, Mullerian aplasia and hyperandrogenism, and renal-genital-middle ear anomalies (see these terms)

McKusick-Kaufman syndrome - Wikipedi

There were no other clinical syndromes, such as Alström syndrome, Mckusick-Kaufman syndrome, Prader-Willi syndrome, Stickler syndrome, Biemond syndrome, Joubert syndrome, or Goldmann-Favre syndrome. Data for initial symptoms and disease progression were collected, and complete medical histories were consulted if available Laurence-Moon-Bardet-Biedl syndrome is a complex, hereditary malformation syndrome from the group of ciliopathies. The syndrome is characterized by multiple malformations caused by mutations on different chromosomes or gene loci. This section has been translated automatically Bardet-Biedl syndrome is genetically heterogeneous with three cloned genes (BBS2, BBS4, and MKKS) and at least three other known loci (BBS1, BBS3, and BBS5). Both McKusick-Kaufman syndrome and Bardet-Biedl syndrome are inherited in an autosomal recessive pattern, and both syndromes are caused by mutations in the MKKS gene Anti-MKKS antibody produced in rabbit purified immunoglobulin, buffered aqueous solution; Synonyms: BBS6,MKS,HMCS,KMS; find Sigma-Aldrich-SAB1401419 MSDS, related peer-reviewed papers, technical documents, similar products & more at Sigma-Aldric

Proteus Syndrome Foundation (PSF) This organization gives out information about the disorder for unknowing families and also where to find nearby help. The organization doesn't do much with the public, but if you check out the site, it shows information about the disorder and how you can help out Dr. Rene C. Arcellana is a Neonatologist in Fort Wayne, IN. Find Dr. Arcellana's phone number, address, insurance information, hospital affiliations and more Unsinn et al. (1995) described a patient who had hydrocolpos and postaxial polydactyly as well as hypothalamic hamartoblastoma, raising the possibility that the Pallister-Hall syndrome and the McKusick-Kaufman syndrome (MKKS; 236700) are one entity

Anaesthetic management in McKusick-Kaufman syndrome

The first gene assigned to BBS was MKKS (MKS; OMIM *604896) already known to induce McKusick‐Kaufman syndrome; given that it did not belong to previously identified BBS loci, it was named BBS6. At present, there are already 21 known BBS genes ( BBS1 - BBS20 and NPHP1 ), and their number is likely to increase due to the invention of exome. Müllerian aplasia is also known as the Mayer—Rokitansky—Küster—Hauser syndrome (MRKH or simply Rokitansky syndrome). This was first given its eponym by Hauser and Schreiner in 1961 (based on a review of the postmortem reports of Mayer (1829), Rokitansky (1838) and Küster (1910))

McKusick-Kaufman Syndrome: The Difficulty of Establishing

Prenatal diagnosis of McKusick-Kaufman/Bardet-Biedl syndrom

  1. Vaginal atresia - Wikipedi
  2. McKusick-Kaufman syndrome: report of an instructive family
  3. Medical Definition of Syndrome, McKusick-Kaufma
  4. McKusick-Kaufman syndrome — Wikipedia Republished // WIKI

Orphanet: McKusick Kaufman syndrom

  1. Further Delineation of the McKusick-Kaufman
  2. McKusick-Kaufman Syndrome (MK catalogue #236700
  3. Laurence-Moon Syndrome - NORD (National Organization for
  4. Polydactyly: 6 Fingers or Toes Symptoms, Causes, Treatment
  5. Genetics : Ellis Van Creveld Syndrome : ellis-van-creveld
  6. Bardet-Biedl Syndrome - EyeWik