Pointed chin

Symptom Information:

Symptom ID: HPO:0000307
Synonyms:
Small pointed chin [HPO:0000307]
Pointed chin [OMIM:Pointed chin]
Small pointed chin [OMIM:Small pointed chin]
Pointed chin [Orphanet:3720]
Quality:
Cross references:
Orphanet:3720 "Pointed chin" [Orphanet:3720]
OMIM: "Pointed chin" [OMIM:Pointed chin]
OMIM: "Small pointed chin" [OMIM:Small pointed chin]
Is a (Direct Parents):
Orphanet Abnormal facial shape
HPO         Abnormality of the chin
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 face(HPO:0000271)
                Abnormality of the chin(HPO:0000306)
                   Pointed chin(HPO:0000307)
MedDRA:
Database Frequency: 45 / 7739
Resource:

All diseases associated with this symptom:

15q14 microdeletion syndrome (Orphanet:261190)
16q24.3 microdeletion syndrome (Orphanet:261250)
1p36 deletion syndrome (Orphanet:1606)
3M syndrome (Orphanet:2616)
Alagille syndrome (Orphanet:52)
Arachnodactyly - intellectual deficit - dysmorphism (Orphanet:1130)
Autosomal recessive chorioretinopathy-microcephaly (Orphanet:2518)
Autosomal recessive multiple pterygium syndrome (Orphanet:2990)
BARAITSER-WINTER SYNDROME 2 (OMIM:614583)
Baraitser-Winter syndrome (Orphanet:2995)
Brachymorphism - onychodysplasia - dysphalangism (Orphanet:1292)
Costello syndrome (Orphanet:3071)
Deafness - epiphyseal dysplasia - short stature (Orphanet:3218)
Deafness with labyrinthine aplasia, microtia, and microdontia (Orphanet:90024)
Distal 22q11.2 microdeletion syndrome (Orphanet:261330)
Distal trisomy 6p (Orphanet:1745)
Familial osteodysplasia, Anderson type (Orphanet:2769)
Focal dermal hypoplasia (Orphanet:2092)
Focal facial dermal dysplasia (Orphanet:79133)
Frontometaphyseal dysplasia (Orphanet:1826)
Generalized congenital lipodystrophy with myopathy (Orphanet:228429)
Goldberg-Shprintzen megacolon syndrome (Orphanet:66629)
Harrod syndrome (Orphanet:2115)
KBG syndrome (Orphanet:2332)
Lethal encephalopathy due to mitochondrial and peroxisomal fission defect (Orphanet:330050)
MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE (OMIM:248000)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 (OMIM:614202)
Megalencephaly (Orphanet:2477)
Microcephaly - lymphedema - chorioretinopathy (Orphanet:2526)
Monosomy 22q13 (Orphanet:48652)
Mowat-Wilson syndrome (Orphanet:2152)
Non-progressive cerebellar ataxia with intellectual deficit (Orphanet:314647)
Pitt-Hopkins-like syndrome 2 (OMIM:614325)
SOTOS SYNDROME 1 (OMIM:117550)
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
STARGARDT MACULAR DEGENERATION, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM,MENTAL RETARDATION, AND DYSMORPHIC FEATURES (OMIM:612948)
Schilbach-Rott syndrome (Orphanet:2353)
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome (Orphanet:314394)
Sotos syndrome (Orphanet:821)
THREE M SYNDROME 2 (OMIM:612921)
THREE M SYNDROME 3 (OMIM:614205)
Williams syndrome (Orphanet:904)
Wilson-Turner syndrome (Orphanet:3459)
Zellweger-like syndrome without peroxisomal anomalies (Orphanet:50812)