| Disease ID | Source | Name | Description |
| 615298 | OMIM | Symphalangism, proximal 1B (SYM1B) | A disease characterized by the hereditary absence of the proximal interphalangeal joints. Distal interphalangeal joints are less frequently involved and metacarpophalangeal joints are rarely affected whereas carpal bone malformation and fusion are common. In the lower extremities, tarsal bone coalition is common. Conductive hearing loss is seen and is due to fusion of the stapes to the petrous part of the temporal bone. The disease is caused by variants affecting the gene represented in this entry. |
| 200700 | OMIM | Acromesomelic chondrodysplasia, Grebe type (AMDG) | An autosomal recessive acromesomelic chondrodysplasia. Acromesomelic chondrodysplasias are rare hereditary skeletal disorders characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMDG is characterized by normal axial skeletons and missing or fused skeletal elements within the hands and feet. The disease is caused by variants affecting the gene represented in this entry. |
| 201250 | OMIM | Acromesomelic chondrodysplasia, Hunter-Thompson type (AMDH) | An autosomal recessive form of dwarfism. Patients have limb abnormalities, with the middle and distal segments being most affected and the lower limbs more affected than the upper. AMDH is characterized by normal axial skeletons and missing or fused skeletal elements within the hands and feet. The disease is caused by variants affecting the gene represented in this entry. |
| 610017 | OMIM | Multiple synostoses syndrome 2 (SYNS2) | A bone disease characterized by multiple progressive joint fusions that commonly involve proximal interphalangeal, tarsal-carpal, humeroradial and cervical spine joints. Additional features can include progressive conductive deafness and facial dysmorphism. The disease is caused by variants affecting the gene represented in this entry. |
| 615072 | OMIM | Brachydactyly A1, C (BDA1C) | A form of brachydactyly type A1. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type A1 is characterized by middle phalanges of all the digits rudimentary or fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. BDA1C inheritance can be autosomal dominant or autosomal recessive. Autosomal dominant BDA1C has a milder phenotype. The disease is caused by variants affecting the gene represented in this entry. |
| 112600 | OMIM | Brachydactyly A2 (BDA2) | A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. In brachydactyly type A2 shortening of the middle phalanges is confined to the index finger and the second toe, all other digits being more or less normal. Because of a rhomboid or triangular shape of the affected middle phalanx, the end of the second finger usually deviates radially. The disease is caused by variants affecting the gene represented in this entry. |
| 113100 | OMIM | Brachydactyly C (BDC) | A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type C is characterized by deformity of the middle and proximal phalanges of the second and third fingers, sometimes with hypersegmentation of the proximal phalanx. The ring finger may be essentially normal and project beyond the others. The disease is caused by variants affecting the gene represented in this entry. Some BDC patients with GDF5 mutations also manifest clinical features of ASPED angel-shaped phalango-epiphyseal dysplasia (ASPED), an autosomal dominant skeletal abnormality characterized by a typical angel-shaped phalanx, brachydactyly, specific radiological findings, abnormal dentition, hip dysplasia, and delayed bone age. This suggests that BDC and ASPED are part of the same clinical spectrum (PubMed:22828468). |
| 228900 | OMIM | Du Pan syndrome (DUPANS) | An autosomal recessive chondrodysplasia characterized by acromesomelic limb shortening, severe reduction or absence of the fibula, and severe hand and feet abnormalities including complex brachydactyly. The disease is caused by variants affecting the gene represented in this entry. |
| 612400 | OMIM | Osteoarthritis 5 (OS5) | A degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis. Clinical symptoms include pain and joint stiffness often leading to significant disability and joint replacement. Disease susceptibility is associated with variants affecting the gene represented in this entry. |