Short chin

Symptom Information:

Symptom ID: HPO:0000331
Synonyms:
Mandibular hypoplasia [Orphanet:3680]
Small chin [OMIM:Small chin]
Hypoplastic mandibula/partial absence of the mandibula [Orphanet:3680]
Microgenia [MedDRA:10027541]
Mandibular hypoplasia [MedDRA:10027541]
Small chin (1 patient) [OMIM:Small chin (1 patient)]
Small chin (2/4 patients) [OMIM:Small chin (2/4 patients)]
Quality:
Cross references:
HPO:0000308 "Microretrognathia" [Orphanet:3680]
HPO:0000347 "Micrognathia" [Orphanet:3680]
Orphanet:3680 "Hypoplastic mandibula/partial absence of the mandibula" [Orphanet:3680]
OMIM: "Small chin" [OMIM:Small chin]
OMIM: "Small chin (1 patient)" [OMIM:Small chin (1 patient)]
OMIM: "Small chin (2/4 patients)" [OMIM:Small chin (2/4 patients)]
UMLS:C0240295 "Mandibular hypoplasia" [Orphanet:3680]
Is a (Direct Parents):
MedDRA Musculoskeletal and connective tissue disorders of face, neck and jaw congenital
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)
                   Short chin(HPO:0000331)
MedDRA:
Musculoskeletal and connective tissue disorders(MedDRA:10028395)
    Musculoskeletal and connective tissue disorders congenital(MedDRA:10028396)
       Musculoskeletal and connective tissue disorders of face, neck and jaw congenital(MedDRA:10028380)
          Short chin(HPO:0000331)
Database Frequency: 33 / 7739
Resource:

All diseases associated with this symptom:

2q23.1 microdeletion syndrome (Orphanet:228402)
5q14.3 microdeletion syndrome (Orphanet:228384)
APLASIA CUTIS CONGENITA, RETICULOLINEAR, WITH MICROCEPHALY, FACIALDYSMORPHISM, AND OTHER CONGENITAL ANOMALIES (OMIM:300887)
Autosomal dominant nonsyndromic intellectual deficit (Orphanet:178469)
Bangstad syndrome (Orphanet:1227)
Bloom syndrome (Orphanet:125)
CHROMOSOME 17p13.1 DELETION SYNDROME (OMIM:613776)
CHROMOSOME 1p32-p31 DELETION SYNDROME (OMIM:613735)
CHROMOSOME 5q12 DELETION SYNDROME (OMIM:615668)
Costello syndrome (Orphanet:3071)
Dysmorphism - conductive hearing loss - heart defect (Orphanet:289553)
Fetal Gaucher disease (Orphanet:85212)
Frontometaphyseal dysplasia (Orphanet:1826)
HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVEFACIAL FEATURES (OMIM:609943)
Hereditary sensory and autonomic neuropathy type 6 (Orphanet:314381)
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES (OMIM:615966)
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME2 (OMIM:614069)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 27 (OMIM:615866)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Menkes disease (Orphanet:565)
Microphthalmia with linear skin defects syndrome (Orphanet:2556)
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency (Orphanet:1194)
Mitochondrial myopathy and sideroblastic anemia (Orphanet:2598)
Monosomy 22q13 (Orphanet:48652)
Mulibrey nanism (Orphanet:2576)
Myopathy, lactic acidosis, and sideroblastic anemia 1; MLASA1 (OMIM:600462)
Neonatal hemochromatosis (Orphanet:446)
PGM1-CDG (Orphanet:319646)
Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis (Orphanet:65288)
RAPADILINO syndrome (Orphanet:3021)
SCARF syndrome (Orphanet:3134)
Syndromic multisystem autoimmune disease due to Itch deficiency (Orphanet:228426)
X-linked hypohidrotic ectodermal dysplasia (Orphanet:181)