Presentation
Entire Body System
- Short Finger
[…] bone of the hand Absent/small outermost finger bone of the hand [ more ] 0009835 Short distal phalanx of finger Short outermost finger bone 0009882 Short foot Short feet Small feet [ more ] 0001773 Short metacarpal Shortened long bone of hand 0010049 [rarediseases.info.nih.gov]
Ears
- Hearing Impairment
impairment 0000407 Symphalangism affecting the phalanges of the hand Fused finger bones of the hand 0009773 Synostosis of carpal bones Fusion of wrist bones 0005048 1%-4% of people have these symptoms Carpal synostosis 0009702 Distal symphalangism of [rarediseases.info.nih.gov]
Musculoskeletal
- Brachydactyly
Brachydactyly type B1 (BDB1) Brachydactyly type B2 (BDB2) Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. [rarediseases.info.nih.gov]
ROR2 - autosomal dominant brachydactyly type B1 This test is available for the following conditions: Conditions > Skeletal > Brachydactyly type b This product is also part of the following panels: WES comprehensive preconception carrier test ¹ WES Disorders [order.radboudumc.nl]
Brachydactylie type A: Étude d'une famille basque. La Nouvelle Presse Médicale 8, 4095–4097.Google Scholar Lenz, W. (1975). Half-chromatid mutations may explain incontinentia pigmenti in males. [cambridge.org]
- Carpal Bone Fusion
[…] finger bones of the hand 0009773 Synostosis of carpal bones Fusion of wrist bones 0005048 1%-4% of people have these symptoms Carpal synostosis 0009702 Distal symphalangism of hands Fused outermost bones of hand 0001204 Proximal symphalangism of hands [rarediseases.info.nih.gov]
Treatment
You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]