Delayed skeletal maturation

Symptom Information:

Symptom ID: HPO:0002750
Synonyms:
Delayed bone age [HPO:0002750]
Delayed bone age before puberty [HPO:0002750]
Delayed bone maturation [HPO:0002750]
Delayed skeletal development [HPO:0002750]
Retarded bone age [HPO:0002750]
Skeletal maturation retardation [HPO:0002750]
Delayed bone age [Orphanet:45360]
Delayed bone age (finding) [Orphanet:45360]
Delayed bone age [OMIM:Delayed bone age]
Delayed bone age before puberty [OMIM:Delayed bone age before puberty]
Delayed bone maturation [OMIM:Delayed bone maturation]
Delayed skeletal development [OMIM:Delayed skeletal development]
Delayed skeletal maturation [OMIM:Delayed skeletal maturation]
Retarded bone age [OMIM:Retarded bone age]
Skeletal maturation retardation [OMIM:Skeletal maturation retardation]
Age bone retarded [Orphanet:45360]
Epiphyses delayed fusion [MedDRA:10015077]
Age bone retarded [MedDRA:10015077]
Closure delayed epiphysis [MedDRA:10015077]
Epiphysis closure delayed [MedDRA:10015077]
Bone age delay [OMIM:Bone age delay]
Delayed bone age (in 1/4 patients) [OMIM:Delayed bone age (in 1/4 patients)]
Delayed bone age (in male and female patients) [OMIM:Delayed bone age (in male and female patients)]
Delayed bone age (in some patients) [OMIM:Delayed bone age (in some patients)]
Quality:
Cross references:
HPO:0001216 "Delayed ossification of carpal bones" [Orphanet:45360]
Orphanet:45360 "Delayed bone age" [Orphanet:45360]
OMIM: "Delayed bone age" [OMIM:Delayed bone age]
OMIM: "Delayed bone age before puberty" [OMIM:Delayed bone age before puberty]
OMIM: "Delayed bone maturation" [OMIM:Delayed bone maturation]
OMIM: "Delayed skeletal development" [OMIM:Delayed skeletal development]
OMIM: "Delayed skeletal maturation" [OMIM:Delayed skeletal maturation]
OMIM: "Retarded bone age" [OMIM:Retarded bone age]
OMIM: "Skeletal maturation retardation" [OMIM:Skeletal maturation retardation]
OMIM: "Bone age delay" [OMIM:Bone age delay]
OMIM: "Delayed bone age (in 1/4 patients)" [OMIM:Delayed bone age (in 1/4 patients)]
OMIM: "Delayed bone age (in male and female patients)" [OMIM:Delayed bone age (in male and female patients)]
OMIM: "Delayed bone age (in some patients)" [OMIM:Delayed bone age (in some patients)]
UMLS:C0541764 "Delayed bone age" [Orphanet:45360]
Is a (Direct Parents):
HPO         Abnormality of skeletal maturation
Orphanet Abnormality of the skeletal system
MedDRA Epiphyseal disorders
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the skeletal system(HPO:0000924)
          Abnormality of skeletal physiology(HPO:0011843)
             Abnormality of skeletal maturation(HPO:0000927)
                Delayed skeletal maturation(HPO:0002750)
MedDRA:
Musculoskeletal and connective tissue disorders(MedDRA:10028395)
    Bone disorders (excl congenital and fractures)(MedDRA:10005959)
       Epiphyseal disorders(MedDRA:10015072)
          Delayed skeletal maturation(HPO:0002750)
Database Frequency: 250 / 7739
Resource:

All diseases associated with this symptom:

14q22q23 microdeletion syndrome (Orphanet:264200)
1p36 deletion syndrome (Orphanet:1606)
2q31.1 microdeletion syndrome (Orphanet:251014)
3M syndrome (Orphanet:2616)
5q35 microduplication syndrome (Orphanet:228415)
ALDH18A1-related De Barsy syndrome (Orphanet:35664)
Acro-osteolysis-keloid-like lesions-premature aging syndrome (Orphanet:363665)
Acro-oto-ocular syndrome (Orphanet:2980)
Acrocapitofemoral dysplasia (Orphanet:63446)
Acrofacial dysostosis, Catania type (Orphanet:1786)
Acrofacial dysostosis, Palagonia type (Orphanet:1787)
Acromicric dysplasia (Orphanet:969)
Adrenomyodystrophy (Orphanet:977)
Alagille syndrome (Orphanet:52)
Alopecia-intellectual deficit syndrome (Orphanet:2850)
Alpha-mannosidosis (Orphanet:61)
Angel-shaped phalango-epiphyseal dysplasia (Orphanet:63442)
Aromatase deficiency (Orphanet:91)
Aspartylglucosaminuria (Orphanet:93)
Autosomal dominant Robinow syndrome (Orphanet:3107)
Autosomal dominant spastic paraplegia type 9 (Orphanet:100990)
Autosomal recessive Kenny-Caffey syndrome (Orphanet:93324)
Autosomal recessive Robinow syndrome (Orphanet:1507)
Axial spondylometaphyseal dysplasia (Orphanet:168549)
BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA (OMIM:609945)
Bardet-Biedl syndrome 16 (OMIM:615993)
Bifunctional enzyme deficiency (Orphanet:300)
Bloom syndrome (Orphanet:125)
Brachydactyly type C (Orphanet:93384)
Brachymorphism - onychodysplasia - dysphalangism (Orphanet:1292)
Brachyolmia-amelogenesis imperfecta syndrome (Orphanet:2899)
Brain calcification, Rajab type (Orphanet:178506)
C syndrome (Orphanet:1308)
CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE III (OMIM:611929)
CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
CHST3-related skeletal dysplasia (Orphanet:263463)
CODAS syndrome (Orphanet:1458)
COFFIN-SIRIS SYNDROME (OMIM:135900)
CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Camptodactyly syndrome, Guadalajara type 1 (Orphanet:1327)
Cardiodysrhythmic potassium-sensitive periodic paralysis (Orphanet:37553)
Cardiofaciocutaneous syndrome (Orphanet:1340)
Carpenter-Waziri syndrome (Orphanet:93973)
Cartilage-hair hypoplasia (Orphanet:175)
Cataract-congenital heart disease-neural tube defect syndrome (Orphanet:314993)
Caudal appendage - deafness (Orphanet:1123)
Chudley-Lowry-Hoar syndrome (Orphanet:93971)
Cleft palate - large ears - small head (Orphanet:2013)
Cleft palate - short stature - vertebral anomalies (Orphanet:2015)
Coffin-Lowry syndrome (Orphanet:192)
Coffin-Siris syndrome (Orphanet:1465)
Cornelia de Lange syndrome (Orphanet:199)
Costello syndrome (Orphanet:3071)
Craniofaciofrontodigital syndrome (Orphanet:363705)
Cryptorchidism - arachnodactyly - intellectual deficit (Orphanet:1548)
De Barsy syndrome (Orphanet:2962)
Deafness - enamel hypoplasia - nail defects (Orphanet:3220)
Duane anomaly - myopathy - scoliosis (Orphanet:50817)
Dubowitz syndrome (Orphanet:235)
Dysmorphism - short stature - deafness - disorder of sex development (Orphanet:2282)
Dysspondyloenchondromatosis (Orphanet:85198)
ESTROGEN RESISTANCE (OMIM:615363)
Ear-patella-short stature syndrome (Orphanet:2554)
Ellis Van Creveld syndrome (Orphanet:289)
Epilepsy - microcephaly - skeletal dysplasia (Orphanet:1948)
Epiphyseal dysplasia - hearing loss - dysmorphism (Orphanet:1825)
Extrasystoles - short stature - hyperpigmentation - microcephaly (Orphanet:1964)
FORSYTHE-WAKELING SYNDROME (OMIM:613606)
Filippi syndrome (Orphanet:3255)
Floating-Harbor syndrome (Orphanet:2044)
Fucosidosis (Orphanet:349)
Fukuda-Miyanomae-Nakata syndrome (Orphanet:2060)
GAPO syndrome (Orphanet:2067)
GELEOPHYSIC DYSPLASIA 2 (OMIM:614185)
GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL (OMIM:615925)
Gaucher disease (Orphanet:355)
Gaucher disease type 1 (Orphanet:77259)
Gaucher disease type 2 (Orphanet:77260)
Gaucher disease type 3 (Orphanet:77261)
Geleophysic dysplasia (Orphanet:2623)
Generalized resistance to thyroid hormone (Orphanet:3221)
Glycogen storage disease due to glucose-6-phosphatase deficiency type a (Orphanet:79258)
Glycogen storage disease due to glucose-6-phosphatase deficiency type b (Orphanet:79259)
Gonadal dysgenesis, XY type - associated anomalies (Orphanet:1770)
Growth delay due to insulin-like growth factor I resistance (Orphanet:73273)
Growth delay due to insulin-like growth factor type 1 deficiency (Orphanet:73272)
Growth hormone insensitivity syndrome (Orphanet:181393)
HUNTER-MACDONALD SYNDROME (OMIM:611962)
HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA (OMIM:614842)
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA (OMIM:614837)
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 (OMIM:614450)
Hall-Riggs syndrome (Orphanet:2107)
Hennekam syndrome (Orphanet:2136)
Histidinuria - renal tubular defect (Orphanet:2158)
Holmes-Gang syndrome (Orphanet:93970)
Holoprosencephaly - craniosynostosis (Orphanet:2163)
Hypertrichosis cubiti - short stature (Orphanet:2220)
Hypertrichotic osteochondrodysplasia, Cantu type (Orphanet:1517)
Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia (Orphanet:1882)
Hypophosphatemic rickets, autosomal recessive, 2 (OMIM:613312)
IMAGe syndrome (Orphanet:85173)
IMMUNODEFICIENCY 12 (OMIM:615468)
Ichthyosis follicularis - alopecia - photophobia (Orphanet:2273)
Intellectual deficit - hypoplastic corpus callosum - preauricular tag (Orphanet:1495)
Intellectual deficit - myopathy - short stature - endocrine defect (Orphanet:3068)
Intellectual deficit - sparse hair - brachydactyly (Orphanet:3051)
Intellectual deficit, Wolff type (Orphanet:3080)
Intellectual deficit, X-linked - dysmorphism - cerebral atrophy (Orphanet:2958)
Intellectual deficit, X-linked - seizures - psoriasis (Orphanet:3052)
Intellectual deficit, X-linked, Pai type (Orphanet:85322)
Intellectual deficit, X-linked, Wittwer type (Orphanet:85291)
Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome (Orphanet:369837)
Isolated anterior cervical hypertrichosis (Orphanet:3387)
Isolated follicle stimulating hormone deficiency (Orphanet:52901)
Isolated growth hormone deficiency type IB (Orphanet:231671)
Isolated thyrotropin-releasing hormone deficiency (Orphanet:238670)
Johanson-Blizzard syndrome (Orphanet:2315)
Juberg-Marsidi syndrome (Orphanet:93972)
KBG syndrome (Orphanet:2332)
KID syndrome (Orphanet:477)
Kallmann syndrome (Orphanet:478)
Kearns-Sayre syndrome (Orphanet:480)
Kenny-Caffey syndrome (Orphanet:2333)
LEOPARD SYNDROME 3 (OMIM:613707)
Langer-Giedion syndrome (Orphanet:502)
Laron syndrome (Orphanet:633)
Larsen-like osseous dysplasia - short stature (Orphanet:2370)
Larsen-like syndrome, B3GAT3 type (Orphanet:284139)
Legg-Calvé-Perthes disease (Orphanet:2380)
Lenz-Majewski hyperostotic dwarfism (Orphanet:2658)
Leprechaunism (Orphanet:508)
Lipodystrophy - intellectual deficit - deafness (Orphanet:50811)
Low birth weight - dwarfism - dysgammaglobulinemia (Orphanet:2621)
Lowry-Wood syndrome (Orphanet:1824)
Lysinuric protein intolerance (Orphanet:470)
MEIER-GORLIN SYNDROME 1 (OMIM:224690)
MEIER-GORLIN SYNDROME 2 (OMIM:613800)
MEIER-GORLIN SYNDROME 3 (OMIM:613803)
MEIER-GORLIN SYNDROME 4 (OMIM:613804)
MEIER-GORLIN SYNDROME 5 (OMIM:613805)
MELAS (Orphanet:550)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 33 (OMIM:616311)
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
MICROCEPHALY, GROWTH RETARDATION, CATARACT, HEARING LOSS, AND UNUSUALAPPEARANCE (OMIM:612947)
MIDFACE HYPOPLASIA, OBESITY, DEVELOPMENTAL DELAY, AND NEONATAL HYPOTONIA (OMIM:608624)
MOMO syndrome (Orphanet:2563)
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
MOVED TO 614732 (OMIM:300290)
Marfanoid habitus - intellectual deficit, autosomal recessive (Orphanet:2463)
Megalencephaly (Orphanet:2477)
Metaphyseal anadysplasia (Orphanet:1040)
Metaphyseal chondrodysplasia, Spahr type (Orphanet:2501)
Mevalonic aciduria (Orphanet:29)
Microcephalic osteodysplastic primordial dwarfism type 2 (Orphanet:2637)
Microcephalic osteodysplastic primordial dwarfism types 1 and 3 (Orphanet:2636)
Microcephalic primordial dwarfism, Dauber type (Orphanet:319675)
Microcephalic primordial dwarfism, Toriello type (Orphanet:2643)
Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type (Orphanet:217026)
Mucopolysaccharidosis type 4 (Orphanet:582)
Multiple epiphyseal dysplasia (Orphanet:251)
Neuroectodermal-endocrine syndrome (Orphanet:2676)
Non-acquired isolated growth hormone deficiency (Orphanet:631)
Non-rhizomelic chondrodysplasia punctata (Orphanet:176)
Noonan syndrome (Orphanet:648)
Noonan syndrome-like disorder with loose anagen hair (Orphanet:2701)
OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
OTOFACIOOSSEOUS-GONADAL SYNDROME (OMIM:601976)
OVARIAN DYSGENESIS 4 (OMIM:616185)
Opsismodysplasia (Orphanet:2746)
Osteochondrodysplatic nanism - deafness - retinitis pigmentosa (Orphanet:2653)
Osteoglophonic dwarfism (Orphanet:2645)
Osteoporosis - pseudoglioma (Orphanet:2788)
Otofaciocervical syndrome (Orphanet:2792)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Pancreatic insufficiency - anemia - hyperostosis (Orphanet:199337)
Pearson syndrome (Orphanet:699)
Pfeiffer-Palm-Teller syndrome (Orphanet:2871)
Pierre Robin syndrome - faciodigital anomaly (Orphanet:2888)
Polyvalvular heart disease syndrome (Orphanet:228410)
Prader-Willi syndrome (Orphanet:739)
Primordial short stature - microdontia - opalescent and rootless teeth (Orphanet:46658)
Progressive familial intrahepatic cholestasis (Orphanet:172)
Pseudoachondroplasia (Orphanet:750)
Pseudoleprechaunism syndrome, Patterson type (Orphanet:2976)
Pseudoprogeria syndrome (Orphanet:2985)
Qazi-Markouizos syndrome (Orphanet:3010)
RUIJS-AALFS SYNDROME (OMIM:616200)
Renier-Gabreels-Jasper syndrome (Orphanet:93975)
Retinitis pigmentosa - intellectual deficit - deafness - hypogenitalism (Orphanet:3085)
Rubinstein-Taybi syndrome due to CREBBP mutations (Orphanet:353277)
SECKEL SYNDROME 1 (OMIM:210600)
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (OMIM:614800)
SHORT syndrome (Orphanet:3163)
SILVER-RUSSELL SYNDROME (OMIM:180860)
SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION (OMIM:612447)
SPONASTRIME dysplasia (Orphanet:93357)
SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE (OMIM:613320)
Sanjad-Sakati syndrome (Orphanet:2323)
Schwartz-Jampel syndrome (Orphanet:800)
Seckel syndrome (Orphanet:808)
Short stature - pituitary and cerebellar defects - small sella turcica (Orphanet:85442)
Short stature - valvular heart disease - characteristic facies (Orphanet:2868)
Short stature due to growth hormone qualitative anomaly (Orphanet:629)
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia (Orphanet:632)
Short stature-delayed bone age due to thyroid hormone metabolism deficiency (Orphanet:171706)
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome (Orphanet:314394)
Shwachman-Diamond syndrome (Orphanet:811)
Sialidosis type 1 (Orphanet:812)
Silver-Russell syndrome (Orphanet:813)
Skeletal dysplasia - epilepsy - short stature (Orphanet:1858)
Smith-Fineman-Myers syndrome (Orphanet:93974)
Spondylocarpotarsal synostosis (Orphanet:3275)
Spondyloepimetaphyseal dysplasia, Bieganski type (Orphanet:168448)
Spondyloepimetaphyseal dysplasia, Missouri type (Orphanet:93356)
Spondyloepiphyseal dysplasia, Kimberley type (Orphanet:93283)
Spondyloepiphyseal dysplasia, Reardon type (Orphanet:163662)
Spondylometaphyseal dysplasia, Kozlowski type (Orphanet:93314)
Spondylometaphyseal dysplasia, Sedaghatian type (Orphanet:93317)
Synostosis - microcephaly - scoliosis (Orphanet:3268)
THREE M SYNDROME 1 (OMIM:273750)
TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
TRICHORHINOPHALANGEAL SYNDROME, TYPE III (OMIM:190351)
Tetrasomy 12p (Orphanet:884)
Thyroid ectopia (Orphanet:95712)
Thyroid hemiagenesis (Orphanet:95719)
Tricho-dento-osseous syndrome (Orphanet:3352)
Trichomegaly - retina pigmentary degeneration - dwarfism (Orphanet:3363)
Trichorhinophalangeal syndrome type 1 and 3 (Orphanet:77258)
Trisomy 12p (Orphanet:1699)
Trisomy 18 (Orphanet:3380)
Trisomy 4p (Orphanet:1738)
Trisomy Xq28 (Orphanet:1762)
Turner syndrome (Orphanet:881)
Ulna metaphyseal dysplasia syndrome (Orphanet:1837)
Upper limb defect - eye and ear abnormalities (Orphanet:2489)
Van den Ende-Gupta syndrome (Orphanet:2460)
Velo-facial-skeletal syndrome (Orphanet:3424)
Weaver-Williams syndrome (Orphanet:3448)
White forelock with malformations (Orphanet:2475)
Wiedemann-Rautenstrauch syndrome (Orphanet:3455)
Wiedemann-Steiner syndrome (Orphanet:319182)
Williams syndrome (Orphanet:904)
Wolcott-Rallison syndrome (Orphanet:1667)
Wolf-Hirschhorn syndrome (Orphanet:280)
Woolly hair - hypotrichosis - everted lower lip - outstanding ears (Orphanet:1409)
X-linked intellectual deficit - hypotonic face (Orphanet:73220)
Xeroderma pigmentosum (Orphanet:910)
Xq27.3q28 duplication syndrome (Orphanet:261483)
Zellweger syndrome (Orphanet:912)
[DEL] GLYCOGEN STORAGE DISEASE Ib (OMIM:232220)