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Aplastic/hypoplastic toenail

MedGen UID:
Concept ID:
Synonym: Aplastic/hypoplastic toenails
HPO: HP:0010624


Absence or underdevelopment of the toenail. [from HPO]

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.
Acromesomelic dysplasia 2B
MedGen UID:
Concept ID:
Disease or Syndrome
Acromesomelic dysplasia-2B (AMD2B) is characterized by normal head and trunk, hypoplastic/dysplastic or absent fibulae, and severe hypoplastic/dysplastic hand/feet abnormalities. Mental development is normal (summary by Szczaluba et al., 2005).
Blepharophimosis-impaired intellectual development syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Blepharophimosis-impaired intellectual development syndrome (BIS) is a congenital disorder characterized by a distinct facial appearance with blepharophimosis and global development delay. Affected individuals have delayed motor skills, sometimes with inability to walk, and impaired intellectual development with poor or absent speech; some patients show behavioral abnormalities. There are recognizable facial features, including epicanthal folds, sparse eyebrows, broad nasal bridge, short nose with downturned tip, and open mouth with thin upper lip. Other more variable features include distal skeletal anomalies, feeding difficulties with poor growth, respiratory infections, and hypotonia with peripheral spasticity (summary by Cappuccio et al., 2020).

Recent clinical studies


Schwarz M, Ryba L, Křepelová A, Moslerová V, Zelinová M, Turnovec M, Martinková J, Kratochvílová L, Drahanský M, Macek M Jr, Havlovicová M
Am J Med Genet A 2022 Apr;188(4):1083-1087. Epub 2021 Dec 14 doi: 10.1002/ajmg.a.62616. PMID: 34907639
Eyaid W, Al-Qattan MM, Al Abdulkareem I, Fetaini N, Al Balwi M
Am J Med Genet A 2011 Mar;155A(3):599-604. Epub 2011 Feb 22 doi: 10.1002/ajmg.a.33717. PMID: 21344627

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