Abnormality of the skull

Symptom Information:

Symptom ID: HPO:0000929
Synonyms:
Cranium anomaly [Orphanet:2000]
Congenital anomaly of skull (disorder) [Orphanet:2000]
Congenital anomaly of skull [Orphanet:2000]
Skull/cranial anomalies [Orphanet:2000]
Congenital skull malformation NOS [Orphanet:2000]
Skull malformation [MedDRA:10062348]
Congenital anomalies of skull and face bones [MedDRA:10062348]
Congenital musculoskeletal deformities of skull, face, and jaw [MedDRA:10062348]
Congenital skull malformation NOS [MedDRA:10062348]
Malformation skull [MedDRA:10062348]
Skull malformation NOS [MedDRA:10062348]
Frontal bossing [MedDRA:10062348]
Frontal bossing (2p21del) [OMIM:Frontal bossing (2p21del)]
Frontal bossing (3 patients) [OMIM:Frontal bossing (3 patients)]
Frontal bossing (78%) [OMIM:Frontal bossing (78%)]
Frontal bossing (79%) [OMIM:Frontal bossing (79%)]
Frontal bossing (females) [OMIM:Frontal bossing (females)]
Frontal bossing (in 1/4 patients) [OMIM:Frontal bossing (in 1/4 patients)]
Frontal bossing (in some patients) [OMIM:Frontal bossing (in some patients)]
Frontal bossing (rare) [OMIM:Frontal bossing (rare)]
Quality:
Cross references:
Orphanet:2000 "Skull/cranial anomalies" [Orphanet:2000]
OMIM: "Frontal bossing (2p21del)" [OMIM:Frontal bossing (2p21del)]
OMIM: "Frontal bossing (3 patients)" [OMIM:Frontal bossing (3 patients)]
OMIM: "Frontal bossing (78%)" [OMIM:Frontal bossing (78%)]
OMIM: "Frontal bossing (79%)" [OMIM:Frontal bossing (79%)]
OMIM: "Frontal bossing (females)" [OMIM:Frontal bossing (females)]
OMIM: "Frontal bossing (in 1/4 patients)" [OMIM:Frontal bossing (in 1/4 patients)]
OMIM: "Frontal bossing (in some patients)" [OMIM:Frontal bossing (in some patients)]
OMIM: "Frontal bossing (rare)" [OMIM:Frontal bossing (rare)]
UMLS:C0265527 "Congenital anomaly of skull" [Orphanet:2000]
Is a (Direct Parents):
HPO         Abnormality of the head
HPO         Abnormality of bony orbit of skull
MedDRA Musculoskeletal and connective tissue disorders of skull congenital
HPO         Abnormal axial skeleton morphology
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 head or neck(HPO:0000152)
          Abnormality of the head(HPO:0000234)
             Abnormality of the skull(HPO:0000929)
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)
          Abnormality of the skull(HPO:0000929)
Database Frequency: 53 / 7739
Resource:

All diseases associated with this symptom:

2p21 microdeletion syndrome (Orphanet:163693)
5p13 microduplication syndrome (Orphanet:329802)
6p22 microdeletion syndrome (Orphanet:251046)
Acalvaria (Orphanet:945)
Acroosteolysis, dominant type (Orphanet:955)
Albright hereditary osteodystrophy (Orphanet:665)
Atypical hypotonia - cystinuria syndrome (Orphanet:238523)
Autosomal dominant Robinow syndrome (Orphanet:3107)
Autosomal recessive Robinow syndrome (Orphanet:1507)
Beta-thalassemia (Orphanet:848)
Beta-thalassemia major (Orphanet:231214)
CARPENTER SYNDROME 2 (OMIM:614976)
Camurati-Engelmann disease (Orphanet:1328)
Childhood-onset hypophosphatasia (Orphanet:247667)
Cranio-osteoarthropathy (Orphanet:1525)
Cranioectodermal dysplasia 3 (OMIM:614099)
Cranioectodermal dysplasia 4 (OMIM:614378)
Craniofacial conodysplasia (Orphanet:85168)
Craniofrontonasal dysplasia (Orphanet:1520)
Crouzon disease (Orphanet:207)
Cutis gyrata - acanthosis nigricans - craniosynostosis (Orphanet:1555)
Diabetic embryopathy (Orphanet:1926)
Diffuse neonatal hemangiomatosis (Orphanet:2123)
Dysostosis, Stanescu type (Orphanet:1798)
Ectodermal dysplasia syndrome (Orphanet:79373)
Encephalocraniocutaneous lipomatosis (Orphanet:2396)
Gorlin syndrome (Orphanet:377)
Gorlin-Chaudhry-Moss syndrome (Orphanet:2095)
Hallermann-Streiff syndrome (Orphanet:2108)
Hereditary acrokeratotic poikiloderma, Weary type (Orphanet:2907)
Holoprosencephaly (Orphanet:2162)
Hurler syndrome (Orphanet:93473)
Hutchinson-Gilford progeria syndrome (Orphanet:740)
Hypotonia - cystinuria syndrome (Orphanet:163690)
Infantile myofibromatosis (Orphanet:2591)
Jung-Wolff-Back-Stahl syndrome (Orphanet:2321)
Juvenile hyaline fibromatosis (Orphanet:2028)
Kindler syndrome (Orphanet:2908)
Klippel-Trénaunay syndrome (Orphanet:90308)
Laron syndrome (Orphanet:633)
Lethal hemolytic anemia - genital anomalies (Orphanet:1046)
Linear verrucous nevus syndrome (Orphanet:2611)
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Mandibuloacral dysplasia (Orphanet:2457)
Microcornea - glaucoma - absent frontal sinuses (Orphanet:2536)
Mosaic variegated aneuploidy syndrome (Orphanet:1052)
Mucopolysaccharidosis type 2, attenuated form (Orphanet:217093)
Mucopolysaccharidosis type 2, severe form (Orphanet:217085)
Occipital horn syndrome (Orphanet:198)
Orofaciodigital syndrome type 1 (Orphanet:2750)
Osteopetrosis (Orphanet:2781)
Rett syndrome (Orphanet:778)
Saethre-Chotzen syndrome (Orphanet:794)