Chromosome 9p deletion syndrome- MedGen UID:
- 167073
- •Concept ID:
- C0795830
- •
- Disease or Syndrome
A rare chromosomal anomaly with characteristics of psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis.
Jackson-Weiss syndrome- MedGen UID:
- 208653
- •Concept ID:
- C0795998
- •
- Disease or Syndrome
Jackson-Weiss syndrome (JWS) is an autosomal dominant condition consisting of craniosynostosis characterized by premature fusion of the cranial sutures as well as radiographic anomalies of the feet (summary by Heike et al., 2001).
Hand-foot-genital syndrome- MedGen UID:
- 331103
- •Concept ID:
- C1841679
- •
- Disease or Syndrome
Hand-foot-genital syndrome (HFGS) is characterized by limb malformations and urogenital defects. Mild-to-severe bilateral shortening of the thumbs and great toes, caused primarily by shortening of the distal phalanx and/or the first metacarpal or metatarsal, is the most common limb malformation and results in impaired dexterity or apposition of the thumbs. Urogenital malformations include abnormalities of the ureters and urethra and various degrees of incomplete müllerian fusion in females, and hypospadias of variable severity with or without chordee in males. Vesicoureteral reflux, recurrent urinary tract infections, and chronic pyelonephritis may occur; fertility is normal.
Hallux varus-preaxial polysyndactyly syndrome- MedGen UID:
- 341088
- •Concept ID:
- C1856197
- •
- Disease or Syndrome
A rare genetic congenital limb malformation disorder with characteristics of bilateral medial displacement of the hallux and preaxial polysyndactyly of the first toes. Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of distal phalanges. There have been no further descriptions in the literature since 1980.
Brachydactyly-preaxial hallux varus syndrome- MedGen UID:
- 349442
- •Concept ID:
- C1862162
- •
- Disease or Syndrome
A rare congenital limb malformation characterized the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits. Intellectual deficit was observed in all reported individuals. There have been no further reports since 1994.
Multiple synostoses syndrome 3- MedGen UID:
- 414116
- •Concept ID:
- C2751826
- •
- Disease or Syndrome
Any multiple synostoses syndrome in which the cause of the disease is a mutation in the FGF9 gene.
Osteochondrodysplasia, brachydactyly, and overlapping malformed digits- MedGen UID:
- 1648332
- •Concept ID:
- C4748496
- •
- Disease or Syndrome
Osteochondrodysplasia, brachydactyly, and overlapping malformed digits (OCBMD) is characterized by bilateral symmetric skeletal defects that primarily affect the limbs. Affected individuals have mild short stature due to shortening of the lower leg bones, as well as hand and foot malformations, predominantly brachydactyly and overlapping digits. Other skeletal defects include scoliosis, dislocated patellae and fibulae, and pectus excavatum (Shabbir et al., 2018).