Rare diseases · Sign or symptom
Abnormal epiphysis morphology
Abnormal shape of end part of bone
HP:0005930
What it means
An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.
Rare diseases that can present with this79
Very common80–99%
44- Absence deformity of leg-cataract syndrome
- Acrofrontofacionasal dysostosis
- Albers-Schönberg osteopetrosis
- Angel-shaped phalango-epiphyseal dysplasia
- Autosomal recessive malignant osteopetrosis
- Blomstrand lethal chondrodysplasia
- Cartilage-hair hypoplasia
- Cloverleaf skull-multiple congenital anomalies syndrome
- CODAS syndrome
- Coxopodopatellar syndrome
- Diastrophic dysplasia
- Dysplasia epiphysealis hemimelica
- Ear-patella-short stature syndrome
- Erdheim-Chester disease
- Fibular aplasia-complex brachydactyly syndrome
- GM1 gangliosidosis
- Hereditary sensory and autonomic neuropathy type 2
- Hip dysplasia, Beukes type
- Intellectual disability-polydactyly-uncombable hair syndrome
- Isolated acheiropodia
- Langer mesomelic dysplasia
- Leri pleonosteosis
- Léri-Weill dyschondrosteosis
- Lowry-Wood syndrome
- Metachondromatosis
- Metaphyseal anadysplasia
- Microcephalic osteodysplastic primordial dwarfism type II
- Microcephalic primordial dwarfism, Toriello type
- Mucopolysaccharidosis type 1
- Mucopolysaccharidosis type 4
- Multiple epiphyseal dysplasia due to collagen 9 anomaly
- Nasu-Hakola disease
- Opsismodysplasia
- Pachydermoperiostosis
- Pierre-Robin sequence-Manzke dysostosis-clinodactyly of the index finger syndrome
- Rhizomelic chondrodysplasia punctata
- Rhizomelic syndrome, Urbach type
- Satoyoshi syndrome
- Schwartz-Jampel syndrome
- Spondyloepimetaphyseal dysplasia, Irapa type
- Spondyloepiphyseal dysplasia, Kimberley type
- Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
- Stickler syndrome
- Thiemann disease, familial form
Common30–79%
21- 48,XXXY syndrome
- 49,XXXXY syndrome
- Adult Refsum disease
- Autosomal recessive Stickler syndrome
- CHIME syndrome
- Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis
- Congenital hypothyroidism due to maternal intake of antithyroid drugs
- Familial thyroid dyshormonogenesis
- Hall-Riggs syndrome
- Hurler syndrome
- Hypothyroidism due to deficient transcription factors involved in pituitary development or function
- Idiopathic congenital hypothyroidism
- Isolated thyroid-stimulating hormone deficiency
- Mesomelic dwarfism-cleft palate-camptodactyly syndrome
- Metaphyseal chondrodysplasia, Spahr type
- Myhre syndrome
- Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis
- Spondyloepimetaphyseal dysplasia, Shohat type
- Stickler syndrome type 1
- Urban-Rogers-Meyer syndrome
- X-linked hypophosphatemia
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: Abnormality of epiphysis morphology · Abnormality of the epiphyses · Anomaly of the epiphyses · Epiphyseal abnormality
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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.