Lenz-Majewski hyperostosis syndrome- MedGen UID:
- 98483
- •Concept ID:
- C0432269
- •
- Congenital Abnormality
Lenz-Majewski hyperostotic dwarfism is a rare condition characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial and dental anomalies, loose skin, and distal limb anomalies, particularly brachydactyly and symphalangism. Patients have multiple radiographic abnormalities due to progressive generalized hyperostosis that affects the cranium, vertebrae, and diaphyses of tubular bones, leading to severe growth retardation (summary by Sousa et al., 2014).
Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch- MedGen UID:
- 376067
- •Concept ID:
- C1847185
- •
- Disease or Syndrome
Yunis-Varon syndrome- MedGen UID:
- 341818
- •Concept ID:
- C1857663
- •
- Disease or Syndrome
Yunis-Varon syndrome (YVS) is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy (summary by Campeau et al., 2013).
Osebold-Remondini syndrome- MedGen UID:
- 350598
- •Concept ID:
- C1862130
- •
- Disease or Syndrome
The Osebold-Remondini syndrome is a bone dysplasia with mesomelic shortness of limbs and, hence, shortness of stature, absence or hypoplasia of second phalanges with synostosis of the remaining phalanges, carpal and tarsal coalitions, and apparently no other anomalies (summary by Opitz and Gilbert, 1985).
See 602875 for a discussion of genetic heterogeneity of autosomal recessive acromesomelic dysplasia.
Brachydactyly type A1- MedGen UID:
- 354673
- •Concept ID:
- C1862151
- •
- Disease or Syndrome
A congenital malformation with apparent shortness (or absence) of the middle phalanges of all digits and occasional fusion with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. Tendency to be of short stature in adulthood. Inherited as an autosomal dominant trait.
Calcaneonavicular coalition- MedGen UID:
- 360296
- •Concept ID:
- C1876184
- •
- Anatomical Abnormality
A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet.
Brachydactyly type B2- MedGen UID:
- 409880
- •Concept ID:
- C1969652
- •
- Disease or Syndrome
Brachydactyly type B2 (BDB2) is a subtype of brachydactyly characterized by hypoplasia/aplasia of distal phalanges in combination with distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly (summary by Lehmann et al., 2007).
Proximal symphalangism 1A- MedGen UID:
- 811492
- •Concept ID:
- C3714899
- •
- Disease or Syndrome
Proximal symphalangism-1A (SYM1A) is an autosomal dominant disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and, in some cases, conductive deafness (Strasburger et al., 1965).
Genetic Heterogeneity of Proximal Symphalangism
Another form of proximal symphalangism (SYM1B; 615298) is caused by mutation in the GDF5 gene (601146).
RAB23-related Carpenter syndrome- MedGen UID:
- 1644017
- •Concept ID:
- C4551510
- •
- Disease or Syndrome
Carpenter syndrome is a rare autosomal recessive disorder with the cardinal features of acrocephaly with variable synostosis of the sagittal, lambdoid, and coronal sutures; peculiar facies; brachydactyly of the hands with syndactyly; preaxial polydactyly and syndactyly of the feet; congenital heart defects; growth retardation; mental retardation; hypogenitalism; and obesity. In addition, cerebral malformations, oral and dental abnormalities, coxa valga, genu valgum, hydronephrosis, precocious puberty, and hearing loss may be observed (summary by Altunhan et al., 2011).
Genetic Heterogeneity of Carpenter Syndrome
Carpenter syndrome-2 (CRPT2; 614976), in which the features of Carpenter syndrome are sometimes associated with defective lateralization, is caused by mutation in the MEGF8 gene (604267).