Rare diseases · Sign or symptom
Abnormal metaphysis morphology
Abnormality of the wide portion of a long bone
HP:0000944
What it means
An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.
Rare diseases that can present with this81
Very common80–99%
59- 3M syndrome
- Albers-Schönberg osteopetrosis
- Autosomal recessive malignant osteopetrosis
- Autosomal recessive omodysplasia
- Cantú syndrome
- Cartilage-hair hypoplasia
- Cloverleaf skull-multiple congenital anomalies syndrome
- Cole-Carpenter syndrome
- Cranioectodermal dysplasia
- Craniometaphyseal dysplasia
- Dermatoosteolysis, Kirghizian type
- Desbuquois syndrome
- Diastrophic dysplasia
- Dysosteosclerosis
- Erdheim-Chester disease
- Fibrochondrogenesis
- Ghosal hematodiaphyseal dysplasia
- GM1 gangliosidosis
- Heart defects-limb shortening syndrome
- Hypophosphatasia
- Infantile myofibromatosis
- Isolated acheiropodia
- Kyphomelic dysplasia
- Larsen-like osseous dysplasia-short stature syndrome
- Lenz-Majewski hyperostotic dysplasia
- Leri pleonosteosis
- Léri-Weill dyschondrosteosis
- Melnick-Needles syndrome
- Metachondromatosis
- Metaphyseal anadysplasia
- Metaphyseal chondrodysplasia, Rosenberg type
- Metaphyseal chondrodysplasia, Spahr type
- Metatropic dysplasia
- Microcephalic osteodysplastic primordial dwarfism type II
- Microcephalic osteodysplastic primordial dwarfism types I and III
- Mucopolysaccharidosis type 1
- Mucopolysaccharidosis type 4
- Mucopolysaccharidosis type 6
- Neonatal severe primary hyperparathyroidism
- Odontochondrodysplasia
- Ollier disease
- Opsismodysplasia
- Osteogenesis imperfecta
- Osteopathia striata-cranial sclerosis syndrome
- Osteopathia striata-pigmentary dermopathy-white forelock syndrome
- Rhizomelic chondrodysplasia punctata
- Satoyoshi syndrome
- Schneckenbecken dysplasia
- Schwartz-Jampel syndrome
- Short-limb skeletal dysplasia with severe combined immunodeficiency
- Short rib-polydactyly syndrome, Verma-Naumoff type
- Spondyloepimetaphyseal dysplasia, Irapa type
- Spondylometaphyseal dysplasia, Schmidt type
- Stüve-Wiedemann syndrome
- Thanatophoric dysplasia
- Thanatophoric dysplasia type 1
- Thanatophoric dysplasia type 2
- Thoracomelic dysplasia
- Weaver syndrome
Common30–79%
14- Acrodysostosis
- Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis
- GAPO syndrome
- Hall-Riggs syndrome
- Hypocalcemic vitamin D-resistant rickets
- Hypochondroplasia
- Jeune syndrome
- Menkes disease
- Mesomelic dwarfism-cleft palate-camptodactyly syndrome
- Myhre syndrome
- Oculodentodigital dysplasia
- Osteosarcoma
- SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
- Thoracic dysplasia-hydrocephalus 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
Tracking symptoms like this for someone? Eleplan keeps symptoms, diagnoses, medications and every specialist in one plan.
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.