Rare diseases · Sign or symptom
Aplasia/Hypoplasia of the distal phalanges of the hand
Absent/small outermost finger bone of the hand
HP:0009835
What it means
Absence or underdevelopment of the distal phalanges.
Rare diseases that can present with this1
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Absent/hypoplastic distal phalanges · Absent/underdeveloped outermost finger bone of the hand · Aplasia/Hypoplasia of the distal phalanges · Aplastic/hypoplastic distal phalanges · Hypoplastic to absent terminal phalanges · Hypoplastic/aplastic distal phalanges · Hypoplastic/aplastic distal phalanx · Small or absent distal phalanges
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.