Terminal osseous dysplasia-pigmentary defects syndrome- MedGen UID:
- 335344
- •Concept ID:
- C1846129
- •
- Disease or Syndrome
Terminal osseous dysplasia is an X-linked dominant male-lethal disease characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma during infancy (Sun et al., 2010).
Richieri Costa-Pereira syndrome- MedGen UID:
- 336581
- •Concept ID:
- C1849348
- •
- Disease or Syndrome
Patients with Richieri-Costa-Pereira syndrome display a pattern of anomalies consisting of microstomia, micrognathia, abnormal fusion of the mandible, cleft palate/Robin sequence, absence of lower central incisors, minor ear anomalies, hypoplastic first ray, abnormal tibiae, hypoplastic halluces, and clubfeet. Learning disability is also a common finding (summary by Favaro et al., 2011).
Mesomelic dysplasia, Savarirayan type- MedGen UID:
- 343129
- •Concept ID:
- C1854470
- •
- Disease or Syndrome
Severely hypoplastic and triangular-shaped tibiae and absence of the fibulae.Two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia also reported.
Mesomelic dwarfism-cleft palate-camptodactyly syndrome- MedGen UID:
- 340833
- •Concept ID:
- C1855273
- •
- Disease or Syndrome
A rare syndrome characterised by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive.
Acromelic frontonasal dysostosis- MedGen UID:
- 350933
- •Concept ID:
- C1863616
- •
- Disease or Syndrome
Verloes et al. (1992) described a rare variant of frontonasal dysplasia (see FND1, 136760), designated acromelic frontonasal dysplasia (AFND), in which similar craniofacial anomalies are associated with variable central nervous system malformations and limb defects including tibial hypoplasia/aplasia, talipes equinovarus, and preaxial polydactyly of the feet.
Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia- MedGen UID:
- 355340
- •Concept ID:
- C1864965
- •
- Disease or Syndrome