Brachycephaly
Symptom Information:
Symptom ID: | HPO:0000248 | |||||||||
Synonyms: |
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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 morphology(HPO:0011842) Abnormal axial skeleton morphology(HPO:0009121) Abnormality of the skull(HPO:0000929) Abnormality of the calvaria(HPO:0002683) Abnormality of calvarial morphology(HPO:0002648) Brachycephaly(HPO:0000248) Abnormality of head or neck(HPO:0000152) Abnormality of the head(HPO:0000234) Abnormality of the skull(HPO:0000929) Abnormality of the calvaria(HPO:0002683) Abnormality of calvarial morphology(HPO:0002648) Brachycephaly(HPO:0000248) MedDRA: Musculoskeletal and connective tissue disorders(MedDRA:10028395) Musculoskeletal and connective tissue disorders congenital(MedDRA:10028396) Musculoskeletal and connective tissue disorders of skull congenital(MedDRA:10028382) Brachycephaly(HPO:0000248) |
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Database Frequency: | 222 / 7739 | |||||||||
Resource: |
All diseases associated with this symptom:
14q22q23 microdeletion syndrome | (Orphanet:264200) |
19p13.12 microdeletion syndrome | (Orphanet:254346) |
1p36 deletion syndrome | (Orphanet:1606) |
2p15p16.1 microdeletion syndrome | (Orphanet:261349) |
2q23.1 microdeletion syndrome | (Orphanet:228402) |
2q32q33 microdeletion syndrome | (Orphanet:251019) |
2q37 microdeletion syndrome | (Orphanet:1001) |
3C syndrome | (Orphanet:7) |
3q13 microdeletion syndrome | (Orphanet:1621) |
48,XXXY syndrome | (Orphanet:96263) |
48,XXYY syndrome | (Orphanet:10) |
49,XXXXY syndrome | (Orphanet:96264) |
5p13 microduplication syndrome | (Orphanet:329802) |
6q16 deletion syndrome | (Orphanet:171829) |
8q12 microduplication syndrome | (Orphanet:228399) |
ACHARD SYNDROME | (OMIM:100700) |
ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE | (OMIM:101800) |
AICA-ribosiduria | (Orphanet:250977) |
ALDH18A1-related De Barsy syndrome | (Orphanet:35664) |
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS | (OMIM:201750) |
AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVEFACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES | (OMIM:109120) |
Acro-fronto-facio-nasal dysostosis | (Orphanet:1784) |
Acrodysostosis | (Orphanet:950) |
Acrodysostosis with multiple hormone resistance | (Orphanet:280651) |
Acromelic frontonasal dysplasia | (Orphanet:1827) |
Adenylosuccinate lyase deficiency | (Orphanet:46) |
Alagille syndrome | (Orphanet:52) |
Angelman syndrome | (Orphanet:72) |
Antley-Bixler syndrome | (Orphanet:83) |
Apert syndrome | (Orphanet:87) |
Arachnodactyly - intellectual deficit - dysmorphism | (Orphanet:1130) |
Aspartylglucosaminuria | (Orphanet:93) |
Autosomal recessive facio-digito-genital syndrome | (Orphanet:1974) |
Autosomal recessive spastic paraplegia type 49 | (Orphanet:320385) |
Baller-Gerold syndrome | (Orphanet:1225) |
Bardet-Biedl syndrome 1 | (OMIM:209900 ) |
Bardet-Biedl syndrome 8 | (OMIM:615985) |
Beckwith-Wiedemann syndrome due to 11p15 microdeletion | (Orphanet:231127) |
Bowed tibiae - radial anomalies - osteopenia - fractures | (Orphanet:3331) |
CARPENTER SYNDROME 1 | (OMIM:201000) |
CARPENTER SYNDROME 2 | (OMIM:614976) |
CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKEFACIAL APPEARANCE, SHORT STATURE, AND MENTAL RETARDATION | (OMIM:601088) |
CLEIDOCRANIAL DYSPLASIA, RECESSIVE FORM | (OMIM:216330) |
CORNELIA DE LANGE SYNDROME 1 | (OMIM:122470) |
CORNELIA DE LANGE SYNDROME 2 | (OMIM:300590) |
CORNELIA DE LANGE SYNDROME 5 | (OMIM:300882) |
CREE MENTAL RETARDATION SYNDROME | (OMIM:606851) |
Camptodactyly - joint contractures - facial skeletal defects | (Orphanet:1323) |
Camptodactyly syndrome, Guadalajara type 1 | (Orphanet:1327) |
Carpenter syndrome | (Orphanet:65759) |
Cartilage-hair hypoplasia | (Orphanet:175) |
Cataract - intellectual deficit - hypogonadism | (Orphanet:1387) |
Cerebellar ataxia - hypogonadism | (Orphanet:1173) |
Cerebro-facio-thoracic dysplasia | (Orphanet:1394) |
Cerebro-oculo-nasal syndrome | (Orphanet:66625) |
Cleft lip/palate - intestinal malrotation - cardiopathy | (Orphanet:2001) |
Cleidocranial dysplasia | (Orphanet:1452) |
Congenital contractural arachnodactyly | (Orphanet:115) |
Cooper-Jabs syndrome | (Orphanet:1488) |
Cornelia de Lange syndrome | (Orphanet:199) |
Corpus callosum agenesis - neuronopathy | (Orphanet:1496) |
Craniofacial dysplasia-osteopenia syndrome | (Orphanet:314555) |
Craniofacial dyssynostosis | (Orphanet:1516) |
Craniofrontonasal dysplasia | (Orphanet:1520) |
Craniosynostosis - anal anomalies - porokeratosis | (Orphanet:85199) |
Craniosynostosis - dysmorphism - brachydactyly | (Orphanet:1535) |
Craniosynostosis - fibular aplasia | (Orphanet:1533) |
Craniosynostosis and dental anomalies | (Orphanet:284149) |
Craniosynostosis, Herrmann-Opitz type | (Orphanet:2145) |
Crouzon disease | (Orphanet:207) |
Crouzon syndrome - acanthosis nigricans | (Orphanet:93262) |
DYGGVE-MELCHIOR-CLAUSEN SYNDROME, X-LINKED | (OMIM:304950) |
De Barsy syndrome | (Orphanet:2962) |
Distal monosomy 3p | (Orphanet:1620) |
Distal monosomy 6p | (Orphanet:96125) |
Distal monosomy 7q36 | (Orphanet:1636) |
Down syndrome | (Orphanet:870) |
Dysostosis, Stanescu type | (Orphanet:1798) |
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 | (OMIM:601776) |
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2 | (OMIM:615539) |
Ehlers-Danlos syndrome, musculocontractural type | (Orphanet:2953) |
Eyebrow duplication - syndactyly | (Orphanet:3172) |
FRONTOFACIONASAL DYSPLASIA | (OMIM:229400) |
Familial lambdoid synostosis | (Orphanet:3267) |
Fetal trimethadione syndrome | (Orphanet:1913) |
Fine-Lubinsky syndrome | (Orphanet:1272) |
Fronto-facio-nasal dysostosis | (Orphanet:1791) |
Frontonasal dysplasia | (Orphanet:250) |
Frontonasal dysplasia with alopecia and genital anomaly | (Orphanet:228390) |
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome | (Orphanet:306542) |
Fucosidosis | (Orphanet:349) |
Gaucher disease - ophthalmoplegia - cardiovascular calcification | (Orphanet:2072) |
German syndrome | (Orphanet:2077) |
Glaucoma - ectopia - microspherophakia - stiff joints - short stature | (Orphanet:2084) |
Gorlin syndrome | (Orphanet:377) |
Gorlin-Chaudhry-Moss syndrome | (Orphanet:2095) |
Grant syndrome | (Orphanet:2097) |
Gómez-López-Hernández syndrome | (Orphanet:1532) |
HOLOPROSENCEPHALY, RECURRENT INFECTIONS, AND MONOCYTOSIS | (OMIM:610680) |
HUMERORADIAL SYNOSTOSIS WITH CRANIOFACIAL ANOMALIES | (OMIM:236410) |
HUNTER-MACDONALD SYNDROME | (OMIM:611962) |
Hallermann-Streiff syndrome | (Orphanet:2108) |
Hirsutism - skeletal dysplasia - intellectual deficit | (Orphanet:2156) |
Holoprosencephaly | (Orphanet:2162) |
Holoprosencephaly - craniosynostosis | (Orphanet:2163) |
Hypertelorism - hypospadias - polysyndactyly syndrome | (Orphanet:2211) |
Hypertelorism, Teebi type | (Orphanet:1519) |
Hypomandibular faciocranial dysostosis | (Orphanet:1790) |
Hypotonia-speech impairment-severe cognitive delay syndrome | (Orphanet:371364) |
Intellectual deficit - athetosis - microphthalmia | (Orphanet:1236) |
Intellectual deficit - balding - patella luxation - acromicria | (Orphanet:3041) |
Intellectual deficit - cataracts - calcified pinnae - myopathy | (Orphanet:3042) |
Intellectual deficit, Buenos-Aires type | (Orphanet:3079) |
Intellectual deficit, X-linked - plagiocephaly | (Orphanet:2898) |
Intellectual deficit, X-linked, Armfield type | (Orphanet:85276) |
Intellectual deficit, X-linked, Wilson type | (Orphanet:85290) |
Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome | (Orphanet:369837) |
Isolated brachycephaly | (Orphanet:35099) |
Ito hypomelanosis | (Orphanet:435) |
KBG syndrome | (Orphanet:2332) |
Kleefstra syndrome | (Orphanet:261494) |
Kleefstra syndrome due to 9q34 microdeletion | (Orphanet:96147) |
LIG4 syndrome | (Orphanet:99812) |
LUBS X-LINKED MENTAL RETARDATION SYNDROME | (OMIM:300260) |
Larsen-like osseous dysplasia - short stature | (Orphanet:2370) |
Larsen-like syndrome, B3GAT3 type | (Orphanet:284139) |
Laurence-Moon syndrome | (Orphanet:2377) |
Lethal occipital encephalocele-skeletal dysplasia syndrome | (Orphanet:293925) |
Lethal osteosclerotic bone dysplasia | (Orphanet:1832) |
Léri-Weill dyschondrosteosis | (Orphanet:240) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 | (OMIM:615761) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 | (OMIM:616078) |
MGAT2-CDG | (Orphanet:79329) |
MOMO syndrome | (Orphanet:2563) |
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 | (OMIM:257300) |
Macrosomia - microphthalmia - cleft palate | (Orphanet:2432) |
Marshall syndrome | (Orphanet:560) |
Menkes disease | (Orphanet:565) |
Mesomelic dwarfism, Nievergelt type | (Orphanet:2633) |
Metaphyseal chondrodysplasia, Jansen type | (Orphanet:33067) |
Methylmalonic acidemia with homocystinuria, type cblX | (Orphanet:369962) |
Microbrachycephaly - ptosis - cleft lip | (Orphanet:2511) |
Microcephaly - brachydactyly - kyphoscoliosis | (Orphanet:3433) |
Microcephaly-microcornea syndrome, Seemanova type | (Orphanet:2528) |
Microphthalmia with brain and digit anomalies | (Orphanet:139471) |
Monosomy 18p | (Orphanet:1598) |
Monosomy 9p | (Orphanet:261112) |
Mosaic variegated aneuploidy syndrome | (Orphanet:1052) |
Muenke syndrome | (Orphanet:53271) |
NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET | (OMIM:616263) |
Neurofaciodigitorenal syndrome | (Orphanet:2673) |
Neurogenic arthrogryposis multiplex congenita | (Orphanet:1143) |
Non-distal trisomy 10q | (Orphanet:1695) |
Non-rhizomelic chondrodysplasia punctata | (Orphanet:176) |
Noonan syndrome with multiple lentigines | (Orphanet:500) |
OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE | (OMIM:257850) |
OSTEOGENESIS IMPERFECTA, TYPE XI | (OMIM:610968) |
OTOFACIOOSSEOUS-GONADAL SYNDROME | (OMIM:601976) |
Oculocerebrofacial syndrome, Kaufman type | (Orphanet:2707) |
Oculocerebrorenal syndrome | (Orphanet:534) |
Oculoosteocutaneous syndrome | (Orphanet:2713) |
Opsismodysplasia | (Orphanet:2746) |
Orofaciodigital syndrome type 8 | (Orphanet:2755) |
Osteogenesis imperfecta | (Orphanet:666) |
Osteopathia striata - cranial sclerosis | (Orphanet:2780) |
Osteopenia - myopia - hearing loss - intellectual deficit - facial dysmorphism | (Orphanet:91133) |
Osteosclerosis - developmental delay - craniosynostosis | (Orphanet:178377) |
PLANTAR LIPOMATOSIS, UNUSUAL FACIES, AND DEVELOPMENTAL DELAY | (OMIM:602342) |
POLYCYSTIC KIDNEY DISEASE, POTTER TYPE I, WITH MICROBRACHYCEPHALY,HYPERTELORISM, AND BRACHYMELIA | (OMIM:263210) |
Pacman dysplasia | (Orphanet:1952) |
Parastremmatic dwarfism | (Orphanet:2646) |
Peroxisomal acyl-CoA oxidase deficiency | (Orphanet:2971) |
Peters-plus syndrome | (Orphanet:709) |
Pfeiffer syndrome type 1 | (Orphanet:93258) |
Pfeiffer syndrome type 3 | (Orphanet:93260) |
Piebaldism | (Orphanet:2884) |
Pilotto syndrome | (Orphanet:2894) |
Pitt-Hopkins-like syndrome 2 | (OMIM:614325) |
Pontocerebellar hypoplasia type 3 | (Orphanet:97249) |
Potocki-Shaffer syndrome | (Orphanet:52022) |
Pseudoaminopterin syndrome | (Orphanet:221120) |
Pterygium colli - intellectual deficit - digital anomalies | (Orphanet:2988) |
Pycnodysostosis | (Orphanet:763) |
RIENHOFF SYNDROME | (OMIM:615582) |
ROBERTS SYNDROME | (OMIM:268300) |
Recombinant 8 syndrome | (Orphanet:96167) |
Renpenning syndrome | (Orphanet:3242) |
Roberts syndrome | (Orphanet:3103) |
Rothmund-Thomson syndrome | (Orphanet:2909) |
SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIB | (OMIM:615087) |
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY | (OMIM:614800) |
SRD5A3-CDG | (Orphanet:324737) |
STEVENSON-CAREY SYNDROME | (OMIM:611961) |
Saethre-Chotzen syndrome | (Orphanet:794) |
Schinzel-Giedion syndrome | (Orphanet:798) |
Short rib-polydactyly syndrome | (Orphanet:1505) |
Short rib-polydactyly syndrome, Majewski type | (Orphanet:93269) |
Short stature - heart defect - craniofacial anomalies | (Orphanet:1088) |
Short stature - intellectual deficit - eye anomalies - cleft lip/palate | (Orphanet:2649) |
Smith-Magenis syndrome | (Orphanet:819) |
Spondyloepimetaphyseal dysplasia, Geneviève type | (Orphanet:168454) |
TMCO1 defect syndrome | (Orphanet:228407) |
Tel Hashomer camptodactyly syndrome | (Orphanet:3292) |
Thrombocytopenia - absent radius | (Orphanet:3320) |
Torg-Winchester syndrome | (Orphanet:3460) |
Treacher-Collins syndrome | (Orphanet:861) |
Tricho-oculo-dermo-vertebral syndrome | (Orphanet:3354) |
Trigonocephaly - bifid nose - acral anomalies | (Orphanet:3368) |
Trisomy 20p | (Orphanet:261318) |
Trisomy 5p | (Orphanet:1742) |
Trisomy 9p | (Orphanet:236) |
WARBURG MICRO SYNDROME 2 | (OMIM:614225) |
WARBURG MICRO SYNDROME 3 | (OMIM:614222) |
WARBURG MICRO SYNDROME 4 | (OMIM:615663) |
WEILL-MARCHESANI SYNDROME 1 | (OMIM:277600) |
Weill-Marchesani syndrome | (Orphanet:3449) |
Wilson-Turner syndrome | (Orphanet:3459) |
Wrinkly skin syndrome | (Orphanet:2834) |
X-linked intellectual deficit with marfanoid habitus | (Orphanet:776) |
X-linked intellectual disability due to GRIA3 anomalies | (Orphanet:364028) |
Zellweger syndrome | (Orphanet:912) |
Zunich-Kaye syndrome | (Orphanet:3474) |