Acrocapitofemoral dysplasia- MedGen UID:
- 334681
- •Concept ID:
- C1843096
- •
- Disease or Syndrome
Acrocapitofemoral dysplasia (ACFD) is an autosomal recessive skeletal dysplasia characterized by postnatal-onset disproportionate short stature, relatively large head, narrow thorax, lumbar lordosis, short limbs, and brachydactyly with small broad nails (Ozyavuz Cubuk and Duz, 2021).
Brachydactyly type A1D- MedGen UID:
- 903193
- •Concept ID:
- C4225183
- •
- Disease or Syndrome
Any brachydactyly type A1 in which the cause of the disease is a mutation in the BMPR1B gene.
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome- MedGen UID:
- 899689
- •Concept ID:
- C4225259
- •
- Disease or Syndrome
Smith-Kingsmore syndrome (SKS) is a rare autosomal dominant syndromic intellectual disability syndrome characterized by macrocephaly, seizures, umbilical hernia, and facial dysmorphic features including frontal bossing, midface hypoplasia, small chin, hypertelorism with downslanting palpebral fissures, depressed nasal bridge, smooth philtrum, and thin upper lip (Smith et al., 2013; Baynam et al., 2015).
Sugarman brachydactyly- MedGen UID:
- 1777636
- •Concept ID:
- C5399870
- •
- Congenital Abnormality
A rare genetic congenital limb malformation with characteristics of brachydactyly of fingers with major proximal phalangeal shortening and immobile proximal interphalangeal joints, as well as dorsally and proximally placed, non-articulating great toes (with or without angulation). Radiographic findings of hands include bilateral double first metacarpals and biphalangeal fifth fingers.