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Short middle phalanx of the 4th finger

MedGen UID:
Concept ID:
Anatomical Abnormality
Synonyms: Brachymesophalangy IV (finger); Hypoplastic/small middle phalanx of ring finger; Hypoplastic/small middle phalanx of the 4th finger; Short middle bone of 4th finger; Short middle phalanx of ring finger
HPO: HP:0009295


Hypoplastic/small middle phalanx of the 4th finger, also known as the ring finger. [from HPO]

Term Hierarchy

Conditions with this feature

Symphalangism-brachydactyly syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Multiple synostoses syndrome is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion. Other features include brachydactyly, hypoplastic or absent middle phalanges, radial head dislocation, and pectus carinatum (summary by Takahashi et al., 2001). Genetic Heterogeneity of Multiple Synostoses Syndrome Other forms of multiple synostoses syndrome include SYNS2 (610017), caused by mutation in the GDF5 gene (601146) on chromosome 20q11; SYNS3 (612961), caused by mutation in the FGF9 gene (600921) on chromosome 13q12; and SYNS4 (617898), caused by mutation in the GDF6 gene (601147) on chromosome 8q22.
Brachydactyly type A1C
MedGen UID:
Concept ID:
Disease or Syndrome
Any brachydactyly type A1 in which the cause of the disease is a mutation in the GDF5 gene.
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
MedGen UID:
Concept ID:
Disease or Syndrome
Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) is characterized by thrombocytopenia that progresses to pancytopenia, in association with congenital proximal fusion of the radius and ulna that results in extremely limited pronation and supination of the forearm (summary by Niihori et al., 2015). For a discussion of genetic heterogeneity of radioulnar synostosis with amegakaryocytic thrombocytopenia, see RUSAT1 (605432).

Recent clinical studies


Williams KD, Nahhas RW, Cottom CR, Lawrence S, Subedi J, Jha B, Czerwinski SA, Blangero J, Williams-Blangero S, Towne B
Am J Hum Biol 2012 Jan-Feb;24(1):68-73. Epub 2011 Dec 1 doi: 10.1002/ajhb.22205. PMID: 22131202Free PMC Article

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