Large fontanelles

Symptom Information:

Symptom ID: HPO:0000239
Synonyms:
Enlarged fontanelles [HPO:0000239]
Large fontanel [HPO:0000239]
Large fontanelle [HPO:0000239]
Large fontanels [HPO:0000239]
Large, late-closing fontanelle [HPO:0000239]
Wide fontanelles [HPO:0000239]
Large fontanelle [Orphanet:2440]
Large fontanelle (finding) [Orphanet:2440]
Delayed fontanelle closure [Orphanet:2440]
Large fontanel [OMIM:Large fontanel]
Large fontanelle [OMIM:Large fontanelle]
Large fontanelles [OMIM:Large fontanelles]
Large fontanels [OMIM:Large fontanels]
Wide fontanelles [OMIM:Wide fontanelles]
Large fontanelle/delayed fontanelle closure [Orphanet:2440]
Enlarged fontanelle [Orphanet:2440]
Delayed fontanelle closure [MedDRA:10054034]
Enlarged fontanelle [MedDRA:10054034]
Enlarged fontanelle [OMIM:Enlarged fontanelle]
Large fontanelles (male and females) [OMIM:Large fontanelles (male and females)]
Quality:
Cross references:
HPO:0001476 "Delayed closure of the anterior fontanelle" [Orphanet:2440]
HPO:0000270 "Delayed cranial suture closure" [Orphanet:2440]
HPO:0000260 "Wide anterior fontanel" [Orphanet:2440]
Orphanet:2440 "Large fontanelle/delayed fontanelle closure" [Orphanet:2440]
OMIM: "Large fontanel" [OMIM:Large fontanel]
OMIM: "Large fontanelle" [OMIM:Large fontanelle]
OMIM: "Large fontanelles" [OMIM:Large fontanelles]
OMIM: "Large fontanels" [OMIM:Large fontanels]
OMIM: "Wide fontanelles" [OMIM:Wide fontanelles]
OMIM: "Enlarged fontanelle" [OMIM:Enlarged fontanelle]
OMIM: "Large fontanelles (male and females)" [OMIM:Large fontanelles (male and females)]
UMLS:C1096211 "Delayed fontanelle closure" [Orphanet:2440]
UMLS:C0456132 "Large fontanelle" [Orphanet:2440]
Is a (Direct Parents):
HPO         Abnormality of fontanelles
Orphanet Abnormality of the skull
MedDRA Musculoskeletal and connective tissue deformities of skull, face and buccal cavity
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       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 the fontanelles or cranial sutures(HPO:0000235)
                      Abnormality of fontanelles(HPO:0011328)
                         Large fontanelles(HPO:0000239)
       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 the fontanelles or cranial sutures(HPO:0000235)
                         Abnormality of fontanelles(HPO:0011328)
                            Large fontanelles(HPO:0000239)
MedDRA:
Musculoskeletal and connective tissue disorders(MedDRA:10028395)
    Musculoskeletal and connective tissue deformities (incl intervertebral disc disorders)(MedDRA:10028377)
       Musculoskeletal and connective tissue deformities of skull, face and buccal cavity(MedDRA:10028378)
          Large fontanelles(HPO:0000239)
Database Frequency: 135 / 7739
Resource:

All diseases associated with this symptom:

17q12 microdeletion syndrome (Orphanet:261265)
1p36 deletion syndrome (Orphanet:1606)
3C syndrome (Orphanet:7)
3q13 microdeletion syndrome (Orphanet:1621)
3q29 microduplication (Orphanet:251038)
4q21 microdeletion syndrome (Orphanet:238750)
ALDH18A1-related De Barsy syndrome (Orphanet:35664)
ALG1-CDG (Orphanet:79327)
ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 3 (OMIM:170995)
Acrocallosal syndrome (Orphanet:36)
Acrocraniofacial dysostosis (Orphanet:949)
Alpha-thalassemia - X-linked intellectual deficit syndrome (Orphanet:847)
Apert syndrome (Orphanet:87)
Arachnodactyly - abnormal ossification - intellectual deficit (Orphanet:1129)
Athyreosis (Orphanet:95713)
Autosomal recessive cutis laxa type 1 (Orphanet:90349)
Autosomal recessive cutis laxa type 2 (Orphanet:90350)
Autosomal recessive cutis laxa type 2B (Orphanet:357064)
Baller-Gerold syndrome (Orphanet:1225)
Baraitser-Winter syndrome (Orphanet:2995)
Beckwith-Wiedemann syndrome (Orphanet:116)
Bifunctional enzyme deficiency (Orphanet:300)
CINCA syndrome (Orphanet:1451)
CREE MENTAL RETARDATION SYNDROME (OMIM:606851)
Central congenital hypothyroidism (Orphanet:226298)
Cleidocranial dysplasia (Orphanet:1452)
Cloverleaf skull - multiple congenital anomalies (Orphanet:93267)
Congenital hypothyroidism (Orphanet:442)
Congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies (Orphanet:95715)
Congenital rubella syndrome (Orphanet:290)
Cranio-osteoarthropathy (Orphanet:1525)
Craniolenticulosutural dysplasia (Orphanet:50814)
Craniomicromelic syndrome (Orphanet:1524)
Craniosynostosis - anal anomalies - porokeratosis (Orphanet:85199)
Craniosynostosis - fibular aplasia (Orphanet:1533)
Craniosynostosis - hydrocephalus - Chiari I malformation - radioulnar synostosis (Orphanet:171839)
Cutis laxa (Orphanet:209)
De Barsy syndrome (Orphanet:2962)
Diaphanospondylodysostosis (Orphanet:66637)
Dislocation of the hip - dysmorphism (Orphanet:2412)
Donnai-Barrow syndrome (Orphanet:2143)
Down syndrome (Orphanet:870)
Dubowitz syndrome (Orphanet:235)
Dysostosis, Stanescu type (Orphanet:1798)
Ehlers-Danlos syndrome, musculocontractural type (Orphanet:2953)
Facial dysmorphism - shawl scrotum - joint laxity (Orphanet:1778)
Familial thyroid dyshormonogenesis (Orphanet:95716)
Fetal hydantoin syndrome (Orphanet:1912)
Fibrochondrogenesis (Orphanet:2021)
Fine-Lubinsky syndrome (Orphanet:1272)
Glutaryl-CoA dehydrogenase deficiency (Orphanet:25)
Grant syndrome (Orphanet:2097)
Growth hormone insensitivity syndrome (Orphanet:181393)
HUNTER-MACDONALD SYNDROME (OMIM:611962)
Hallermann-Streiff syndrome (Orphanet:2108)
Hennekam-Beemer syndrome (Orphanet:2135)
Hutchinson-Gilford progeria syndrome (Orphanet:740)
Hypertelorism - hypospadias - polysyndactyly syndrome (Orphanet:2211)
Hypophosphatasia (Orphanet:436)
Hypothyroidism due to TSH receptor mutations (Orphanet:90673)
Hypothyroidism due to deficient transcription factors involved in pituitary development or function (Orphanet:226307)
Idiopathic congenital hypothyroidism (Orphanet:95717)
Infantile hypophosphatasia (Orphanet:247651)
Infantile spasms - broad thumbs (Orphanet:3173)
Intellectual deficit, X-linked - craniofacioskeletal syndrome (Orphanet:163979)
Intellectual deficit, X-linked, Wittwer type (Orphanet:85291)
Isolated thyroid-stimulating hormone deficiency (Orphanet:90674)
Ito hypomelanosis (Orphanet:435)
Kenny-Caffey syndrome (Orphanet:2333)
Lacrimo-auriculo-dento-digital syndrome (Orphanet:2363)
Lenz-Majewski hyperostotic dwarfism (Orphanet:2658)
Lethal osteosclerotic bone dysplasia (Orphanet:1832)
Lethal restrictive dermopathy (Orphanet:1662)
Leukocyte adhesion deficiency (Orphanet:2968)
Macrosomia - microphthalmia - cleft palate (Orphanet:2432)
Mandibuloacral dysplasia (Orphanet:2457)
Mandibuloacral dysplasia with type A lipodystrophy (Orphanet:90153)
Mandibuloacral dysplasia with type B lipodystrophy (Orphanet:90154)
Mandibulofacial dysostosis - macroblepharon - macrostomia (Orphanet:357158)
Megalencephaly (Orphanet:2477)
Mevalonic aciduria (Orphanet:29)
Microbrachycephaly - ptosis - cleft lip (Orphanet:2511)
Mosaic trisomy 9 (Orphanet:99776)
Mulibrey nanism (Orphanet:2576)
Multiple congenital anomalies-hypotonia-seizures syndrome type 2 (Orphanet:300496)
Neonatal adrenoleukodystrophy (Orphanet:44)
OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Occipital horn syndrome (Orphanet:198)
Opitz G/BBB syndrome (Orphanet:2745)
Opsismodysplasia (Orphanet:2746)
Osteocraniostenosis (Orphanet:2763)
Osteodysplasty, Melnick-Needles type (Orphanet:2484)
Osteogenesis imperfecta (Orphanet:666)
Osteogenesis imperfecta type 2 (Orphanet:216804)
Osteopathia striata - cranial sclerosis (Orphanet:2780)
Otopalatodigital syndrome (Orphanet:669)
Otopalatodigital syndrome type 2 (Orphanet:90652)
PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER) (OMIM:614883)
PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER) (OMIM:614887)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) (OMIM:214110)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
PYCR1-related DeBarsy syndrome (Orphanet:293633)
Perinatal lethal hypophosphatasia (Orphanet:247623)
Peripheral hypothyroidism (Orphanet:226310)
Peripheral resistance to thyroid hormones (Orphanet:97927)
Permanent congenital hypothyroidism (Orphanet:226292)
Polysyndactyly - cardiac malformation (Orphanet:2934)
Primary congenital hypothyroidism (Orphanet:226295)
Primary congenital hypothyroidism without thyroid developmental anomaly (Orphanet:95714)
Progeroid syndrome, Petty type (Orphanet:2963)
Pycnodysostosis (Orphanet:763)
Renal tubular dysgenesis (Orphanet:3033)
Renal tubular dysgenesis of genetic origin (Orphanet:97369)
Resistance to thyrotropin-releasing hormone syndrome (Orphanet:99832)
Rhizomelic chondrodysplasia punctata type 2 (Orphanet:309796)
Rhizomelic syndrome, Urbach type (Orphanet:3098)
SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE (OMIM:613320)
Schinzel-Giedion syndrome (Orphanet:798)
Shprintzen-Goldberg syndrome (Orphanet:2462)
TARP syndrome (Orphanet:2886)
Thyroid ectopia (Orphanet:95712)
Thyroid hemiagenesis (Orphanet:95719)
Thyroid hypoplasia (Orphanet:95720)
Toriello-Carey syndrome (Orphanet:3338)
Transient congenital hypothyroidism (Orphanet:178045)
Triopia (Orphanet:3374)
Triploidy (Orphanet:3376)
Trisomy 13 (Orphanet:3378)
Trisomy 18 (Orphanet:3380)
Ulna hypoplasia - intellectual deficit (Orphanet:2249)
VACTERL/VATER association (Orphanet:887)
Wiedemann-Rautenstrauch syndrome (Orphanet:3455)
Yunis-Varon syndrome (Orphanet:3472)
Zellweger syndrome (Orphanet:912)