Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 8 of 8 for Bent bone dysplasia syndrome 1
  1. FGFR2 gene 
    ... have been found in individuals with conditions called bent bone dysplasia syndrome and Antley-Bixler syndrome.Bent bone dysplasia syndrome is characterized by the underdevelopment of certain bones, ...
    https://medlineplus.gov/genetics/gene/fgfr2 - Genetics
  2. Terminal osseous dysplasia 
    ... spectrum disorders, which also includes otopalatodigital syndrome type 1, ... in tiny bones in the ears (ossicles), problems in the development ...
    https://medlineplus.gov/.../condition/terminal-osseous-dysplasia - Genetics
  3. Ehlers-Danlos syndrome 
    ... limbs. Abnormalities of muscles, including hypotonia and permanently bent joints ... syndrome appears to be at least 1 in 5,000 individuals worldwide. The hypermobile and ...
    https://medlineplus.gov/genetics/condition/ehlers-danlos-syndrome -
  4. Hennekam syndrome 
    ... disability syndrome Genetic Testing Registry: Hennekam lymphangiectasia-lymphedema syndrome 1 Genetic Testing Registry: Hennekam lymphangiectasia-lymphedema syndrome 2 ...
    https://medlineplus.gov/genetics/condition/hennekam-syndrome - Genetics
  5. Stüve-Wiedemann syndrome 
    ... National Organization for Rare Disorders (NORD) STUVE-WIEDEMANN SYNDROME 1; STWS1 PubMed Dagoneau N, Scheffer D, Huber C, ...
    https://medlineplus.gov/genetics/condition/stuve-wiedemann-syndrome - Genetics
  6. FGFR3 gene 
    ... of a rare sub-type of epidermal nevus syndrome. J Pediatr Neurosci. 2014 Jan;9(1):66-9. doi: 10.4103/1817-1745.131493. ... family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. Endocr Rev. 2000 Feb;21(1):23-39. doi: 10.1210/edrv.21.1. ...
    https://medlineplus.gov/genetics/gene/fgfr3 - Genetics
  7. Caudal regression syndrome 
    ... or hearing problems. The frequency of caudal regression syndrome is unknown. It is estimated to occur in 1 to 2.5 in 100,000 newborns. This ... parent has diabetes while pregnant, affecting an estimated 1 in 350 newborns in this group. ... Caudal regression syndrome is a complex condition that may have different ...
    https://medlineplus.gov/.../condition/caudal-regression-syndrome - Genetics
  8. Campomelic dysplasia 
    ... term "campomelic" comes from the Greek words for "bent limb." Affected individuals ... usually have short legs, dislocated hips, underdeveloped shoulder ...
    https://medlineplus.gov/genetics/condition/campomelic-dysplasia - Genetics