Delayed skeletal maturation
Symptom Information:
Symptom ID: | HPO:0002750 | ||||||||||||||||||||||||
Synonyms: |
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Cross references: |
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Is a (Direct Parents): |
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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) |
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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) |