Brachycephaly

Symptom Information:

Symptom ID: HPO:0000248
Synonyms:
Brachycephaly (disorder) [Orphanet:2320]
Brachycephaly [Orphanet:2320]
Brachycephaly [OMIM:Brachycephaly]
Brachycephaly/flat occiput [Orphanet:2320]
Brachycephaly [MedDRA:10053682]
Brachycephaly (1 patient) [OMIM:Brachycephaly (1 patient)]
Brachycephaly (females) [OMIM:Brachycephaly (females)]
Brachycephaly (in some patients) [OMIM:Brachycephaly (in some patients)]
Brachycephaly (rare) [OMIM:Brachycephaly (rare)]
Quality:
Cross references:
Orphanet:2320 "Brachycephaly/flat occiput" [Orphanet:2320]
OMIM: "Brachycephaly" [OMIM:Brachycephaly]
OMIM: "Brachycephaly (1 patient)" [OMIM:Brachycephaly (1 patient)]
OMIM: "Brachycephaly (females)" [OMIM:Brachycephaly (females)]
OMIM: "Brachycephaly (in some patients)" [OMIM:Brachycephaly (in some patients)]
OMIM: "Brachycephaly (rare)" [OMIM:Brachycephaly (rare)]
UMLS:C0221356 "Brachycephaly" [HPO:0000248]
UMLS:C0221356 "Brachycephaly" [Orphanet:2320]
Is a (Direct Parents):
HPO         Abnormality of calvarial morphology
Orphanet Craniosynostosis
MedDRA Musculoskeletal and connective tissue disorders of skull congenital
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)
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)