Laron-type isolated somatotropin defect- MedGen UID:
- 78776
- •Concept ID:
- C0271568
- •
- Disease or Syndrome
Laron syndrome is an autosomal recessive disorder characterized by marked short stature that results from failure to generate insulin-like growth factor I (IGF1; 147440) in response to growth hormone (GH; 139250). GH levels are normal or increased. The disorder is caused by dysfunction of the growth hormone receptor.
A Laron syndrome-like phenotype associated with immunodeficiency (245590) is caused by a postreceptor defect, i.e., mutation in the STAT5B gene (604260).
Patients with mutations in the GHR gene that cause only partial insensitivity to growth hormone have a form of short stature (604271).
Metachondromatosis- MedGen UID:
- 98377
- •Concept ID:
- C0410530
- •
- Disease or Syndrome
Metachondromatosis is characterized by exostoses (osteochondromas), commonly of the hands and feet, and enchondromas of long bone metaphyses and iliac crests (summary by Sobreira et al., 2010).
Progeroid short stature with pigmented nevi- MedGen UID:
- 224702
- •Concept ID:
- C1261128
- •
- Disease or Syndrome
Mulvihill-Smith syndrome is characterized by premature aging, multiple pigmented nevi, lack of facial subcutaneous fat, microcephaly, short stature, sensorineural hearing loss, and mental retardation. Immunodeficiency may also be a feature. Adult manifestations include the development of tumors, a sleep disorder with severe insomnia, and cognitive decline (summary by Yagihashi et al., 2009).
Coracoclavicular joint, anomalous- MedGen UID:
- 377706
- •Concept ID:
- C1852561
- •
- Congenital Abnormality
Bowen-Conradi syndrome- MedGen UID:
- 349160
- •Concept ID:
- C1859405
- •
- Disease or Syndrome
Bowen-Conradi syndrome (BWCNS) is an autosomal recessive disorder characterized by severely impaired prenatal and postnatal growth, microcephaly, prominent nose with absent glabellar angle, micrognathia, joint abnormalities including flexion contractures, camptodactyly, rocker-bottom feet, and severe psychomotor delay. Most patients do not survive beyond the first year of life as a result of complications associated with reduced mobility and failure to thrive (summary by Armistead et al., 2009).
Spondyloarthropathy, susceptibility to, 2- MedGen UID:
- 355791
- •Concept ID:
- C1866738
- •
- Disease or Syndrome