Rare diseases · Sign or symptom
Short distal phalanx of finger
Short outermost finger bone
HP:0009882
What it means
Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.
This term differs from Partial absence of the finger because in that term, the phalanx must be missing, whereas in this term it may be small, but present. Distal phalangeal lengths can be assessed subjectively by comparing that digit segment to the rest of the digit, to other normal digits in that patient, or to typical patients of that age or build. Regarding the subjective definition, for individuals who do not have flexion creases, one may determine this by flexing the DIP joint and estimating the length of the terminal segment of the digit. Alternatively, one may be able to palpate the joint.
Rare diseases that can present with this76
Very common80–99%
40- Acrocraniofacial dysostosis
- Acrofrontofacionasal dysostosis
- Acropectorovertebral dysplasia
- Albers-Schönberg osteopetrosis
- Aphalangy-syndactyly-microcephaly syndrome
- Autosomal recessive distal osteolysis syndrome
- Autosomal recessive Robinow syndrome
- Brachydactyly type B
- Brachydactyly type B2
- Brachytelephalangic chondrodysplasia punctata
- Brachytelephalangy-dysmorphism-Kallmann syndrome
- Branchiogenic deafness syndrome
- Cranioectodermal dysplasia
- Cryptomicrotia-brachydactyly-excess fingertip arch syndrome
- Dahlberg-Borer-Newcomer syndrome
- Ellis-Van Creveld syndrome
- Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
- Familial digital arthropathy-brachydactyly
- Gorlin-Chaudhry-Moss syndrome
- Hajdu-Cheney syndrome
- Hand-foot-genital syndrome
- Holoprosencephaly-craniosynostosis syndrome
- Intellectual disability, Wolff type
- Keipert syndrome
- Keutel syndrome
- Larsen syndrome
- Lissencephaly type 3-metacarpal bone dysplasia syndrome
- Mandibuloacral dysplasia with type A lipodystrophy
- Mandibuloacral dysplasia with type B lipodystrophy
- Microcephaly-albinism-digital anomalies syndrome
- Platyspondylic dysplasia, Torrance type
- Progeria-short stature-pigmented nevi syndrome
- Progeroid syndrome, Petty type
- Rhizomelic syndrome, Urbach type
- Ring chromosome 6 syndrome
- Skeletal dysplasia-epilepsy-short stature syndrome
- Sorsby syndrome
- Syndactyly type 5
- Trichorhinophalangeal syndrome type 1
- Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome
Common30–79%
20- Adams-Oliver syndrome
- Brachydactyly type E
- Cantú syndrome
- Cleft palate-large ears-small head syndrome
- Coffin-Lowry syndrome
- Crane-Heise syndrome
- Distal deletion 15q syndrome
- DOORS syndrome
- Fetal hydantoin syndrome
- Frontometaphyseal dysplasia
- Fryns syndrome
- Hypoglossia-hypodactyly syndrome
- Maxillonasal dysplasia
- Melnick-Needles syndrome
- Microcephaly-cardiac defect-lung malsegmentation syndrome
- Otopalatodigital syndrome type 1
- Schinzel-Giedion syndrome
- Spondylometaphyseal dysplasia, Kozlowski type
- Vitamin K antagonist embryofetopathy
- Zechi-Ceide syndrome
Sometimes5–29%
15- Alagille syndrome
- Camptodactyly syndrome, Guadalajara type 1
- Cocaine embryofetopathy
- Distal 22q11.2 microdeletion syndrome
- Fountain syndrome
- Intellectual disability-facial dysmorphism-hand anomalies syndrome
- Lung agenesis-heart defect-thumb anomalies syndrome
- Oculocerebrocutaneous syndrome
and 7 more in this range
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: Brachytelophalangy · Distal phalangeal hypoplasia · Hypoplasia of the distal phalanges · Hypoplasia of the distal phalanges of the hand · Hypoplastic distal phalanges · Hypoplastic terminal phalanges · Short distal phalanges · Terminal phalangeal hypoplasia of hand
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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.