Rare diseases · Sign or symptom
Delayed skeletal maturation
Delayed bone maturation
HP:0002750
What it means
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Rare diseases that can present with this199
Very common80–99%
80- 3M syndrome
- 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
- 46,XY difference of sex development due to isolated 17,20-lyase deficiency
- 49,XXXYY syndrome
- 49,XYYYY syndrome
- Acrocapitofemoral dysplasia
- Acrofacial dysostosis, Palagonia type
- Alopecia-intellectual disability syndrome
- Alpha-mannosidosis
- Aromatase deficiency
- Brachymorphism-onychodysplasia-dysphalangism syndrome
- Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome
- Chondroectodermal dysplasia with night blindness
- Cleft palate-large ears-small head syndrome
- CODAS syndrome
- Coffin-Lowry syndrome
- Cornelia de Lange syndrome
- Costello syndrome
- Craniosynostosis-anal anomalies-porokeratosis syndrome
- Deafness-hypogonadism syndrome
- De Barsy syndrome
- Ear-patella-short stature syndrome
- Epilepsy-microcephaly-skeletal dysplasia syndrome
- Epiphyseal dysplasia-hearing loss-dysmorphism syndrome
- GAPO syndrome
- Gaucher disease type 1
- Growth delay due to insulin-like growth factor I resistance
- Histidinuria-renal tubular defect syndrome
- Holoprosencephaly-craniosynostosis syndrome
- Hypergonadotropic hypogonadism-cataract syndrome
- Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
- Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
- Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
- Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
- Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
- Intellectual disability-myopathy-short stature-endocrine defect syndrome
- Intellectual disability, Wolff type
- Isolated follicle stimulating hormone deficiency
- Isolated megalencephaly
- Laron syndrome
- Legg-Calvé-Perthes disease
- Lenz-Majewski hyperostotic dysplasia
- Leydig cell hypoplasia
- Metaphyseal chondrodysplasia, Rosenberg type
- Metaphyseal chondrodysplasia, Spahr type
- Mevalonic aciduria
- Microcephalic osteodysplastic primordial dwarfism type II
- Microcephalic osteodysplastic primordial dwarfism types I and III
- Microcephalic primordial dwarfism, Toriello type
- Monosomy X syndrome
- Mosaic monosomy X syndrome
- Mucopolysaccharidosis type 4
- Non-acquired isolated growth hormone deficiency
- Noonan syndrome-like disorder with loose anagen hair
- Normosmic congenital hypogonadotropic hypogonadism
- Opsismodysplasia
- Pallister-Killian syndrome
- Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
- Proximal Xq28 duplication syndrome
- Pseudoleprechaunism syndrome, Patterson type
- Radioulnar synostosis-microcephaly-scoliosis syndrome
- Sanjad-Sakati syndrome
- Seckel syndrome
- Short stature due to GHSR deficiency
- Short stature due to partial GHR deficiency
- Short stature-valvular heart disease-characteristic facies syndrome
- Sialidosis type 1
- Silver-Russell syndrome due to an imprinting defect of 11p15
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
- Spondylometaphyseal dysplasia, Sedaghatian type
- STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
- Trichorhinophalangeal syndrome type 2
- Turner syndrome
- Turner syndrome due to structural X chromosome anomalies
- Upper limb defect-eye and ear abnormalities syndrome
- White forelock with malformations
- Woodhouse-Sakati syndrome
- X-linked intellectual disability, Cilliers type
- X-linked intellectual disability, Van Esch type
- XY type gonadal dysgenesis-associated anomalies 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: Delayed bone age · Delayed bone age before puberty · Delayed skeletal development · Retarded bone age · Retarded ossification · Skeletal maturation retardation
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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.