Rare diseases · Sign or symptom
Aplasia/Hypoplasia of the thumb
Absent/small thumb
HP:0009601
What it means
Hypoplastic/small or absent thumb.
Rare diseases that can present with this31
Very common80–99%
11Common30–79%
9- Acromesomelic dysplasia, Grebe type
- Apert syndrome
- Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
- Distal limb deficiencies-micrognathia syndrome
- Holoprosencephaly-radial heart renal anomalies syndrome
- RAPADILINO syndrome
- Symbrachydactyly of hands and feet
- Thalidomide embryopathy
- Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
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 or hypoplastic thumbs · Absent/hypoplastic thumb · Absent/hypoplastic thumbs · Absent/underdeveloped thumb · Aplasia/hypoplasia of thumbs · Aplastic/hypoplastic thumbs · Hypoplastic to aplastic thumbs · Hypoplastic/absent thumb
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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.