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Aplasia of the distal phalanx of the 3rd finger

MedGen UID:
Concept ID:
Synonym: Absent of the outermost bone of the middle finger
HPO: HP:0009429


Absence of the distal phalanx of the middle (3rd) finger. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAplasia of the distal phalanx of the 3rd finger

Conditions with this feature

Child syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
The NSDHL-related disorders include: CHILD (congenital hemidysplasia with ichthyosiform nevus and limb defects) syndrome, an X-linked condition that is usually male lethal during gestation and thus predominantly affects females; and CK syndrome, an X-linked disorder that affects males. CHILD syndrome is characterized by unilateral distribution of ichthyosiform (yellow scaly) skin lesions and ipsilateral limb defects that range from shortening of the metacarpals and phalanges to absence of the entire limb. Intellect is usually normal. The ichthyosiform skin lesions are usually present at birth or in the first weeks of life; new lesions can develop in later life. Nail changes are also common. The heart, lung, and kidneys can also be involved. CK syndrome (named for the initials of the original proband) is characterized by mild to severe cognitive impairment and behavior problems (aggression, attention deficit hyperactivity disorder, and irritability). All affected males reported have developed seizures in infancy and have cerebral cortical malformations and microcephaly. All have distinctive facial features, a thin habitus, and relatively long, thin fingers and toes. Some have scoliosis and kyphosis. Strabismus is common. Optic atrophy is also reported.

Recent clinical studies


Tülay Koca T, Çiledağ Özdemir F
Eur Rev Med Pharmacol Sci 2015 Dec;19(23):4549-52. PMID: 26698251


Rott HD, Krieg P, Rütschle H, Kraus C
Genet Couns 2003;14(3):281-8. PMID: 14577672

Clinical prediction guides

Tülay Koca T, Çiledağ Özdemir F
Eur Rev Med Pharmacol Sci 2015 Dec;19(23):4549-52. PMID: 26698251

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