Rare diseases · Sign or symptom
Broad thumb
Broad thumbs
HP:0011304
What it means
Increased thumb width without increased dorso-ventral dimension.
Note that this term should not be used for thumbs that meet the definition for Macrodactyly.
Rare diseases that can present with this69
Very common80–99%
21- Acrocraniofacial dysostosis
- Acrofrontofacionasal dysostosis
- Acropectorovertebral dysplasia
- Brachydactyly-preaxial hallux varus syndrome
- Cooks syndrome
- Dubowitz syndrome
- Frontometaphyseal dysplasia
- Infantile spasms-broad thumbs syndrome
- Keipert syndrome
- Larsen syndrome
- Leri pleonosteosis
- Pfeiffer syndrome
- Pfeiffer syndrome type 1
- Pfeiffer syndrome type 2
- Pfeiffer syndrome type 3
- Rubinstein-Taybi syndrome
- Rubinstein-Taybi syndrome due to CREBBP mutations
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
- Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
- Spondyloepimetaphyseal dysplasia, aggrecan type
- XY type gonadal dysgenesis-associated anomalies syndrome
Common30–79%
23- Apert syndrome
- Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
- Autosomal recessive Robinow syndrome
- Carpenter syndrome
- Curry-Jones syndrome
- Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
- Hypertelorism-hypospadias-polysyndactyly syndrome
- Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
- Intellectual disability, Wolff type
- Isolated nail clubbing
- Microcephaly-brachydactyly-kyphoscoliosis syndrome
- Multiple sulfatase deficiency
- Multiple synostoses syndrome
- Pallister-Hall syndrome
- PHAVER syndrome
- Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
- SATB2-associated syndrome due to a pathogenic variant
- Simpson-Golabi-Behmel syndrome
- Sorsby syndrome
- Temple-Baraitser syndrome
- Ulna hypoplasia-intellectual disability syndrome
- Weaver syndrome
- XYLT1-CDG
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: Broad phalanges of the thumb · Wide/broad thumb · Wide/broad thumb 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.