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Brachydactyly - elbow wrist dysplasia
1 OMIM reference -
1 associated gene
14 connected diseases
12 signs/symptoms
Disease Type of connection
Familial clubfoot due to 5q31 microdeletion
Familial clubfoot due to PITX1 point mutation
46,XX gonadal dysgenesis
46,XY complete gonadal dysgenesis
46,XY partial gonadal dysgenesis
Combined pituitary hormone deficiencies, genetic forms
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
ALG13-CDG
Aneurysm - osteoarthritis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
X-linked non-syndromic intellectual deficit
MODY syndrome
Intellectual deficit - sparse hair - brachydactyly
Synonym(s):
- Brachydactyly - joint dysplasia
- Liebenberg syndrome
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
PITX1 P78337602149
Very frequent
- Autosomal dominant inheritance
- Carpal bones fusion / synostosis
- Clinodactyly of fifth finger
- Elbow dislocation
- Humerus anomaly / absence / agenesis / hypoplasia / congenital humerus varus
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray
- Restricted joint mobility / joint stiffness / ankylosis
- Short hand / brachydactyly
- Terminal / third phalangeal bone of fingers broadened / deviated
- Thin / hypoplastic / hyperconvex fingernails
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray