Retrognathia

Symptom Information:

Symptom ID: HPO:0000278
Synonyms:
Receding chin [HPO:0000278]
Receding mandible [HPO:0000278]
Congenital retrognathism [HPO:0000278]
Congenital retrognathism (disorder) [Orphanet:3660]
Retrognathism [Orphanet:3660]
Receding chin [OMIM:Receding chin]
Retrognathia [OMIM:Retrognathia]
Micrognathia/retrognathia/micrognathism/retrognathism [Orphanet:3660]
Retrognathia [Orphanet:3660]
Retrognathia [MedDRA:10051821]
Retrognathia (1 patient) [OMIM:Retrognathia (1 patient)]
Retrognathia (37%) [OMIM:Retrognathia (37%)]
Retrognathia (44%) [OMIM:Retrognathia (44%)]
Retrognathia (rare) [OMIM:Retrognathia (rare)]
Retrognathism [OMIM:Retrognathism]
Quality:
Cross references:
Orphanet:3660 "Micrognathia/retrognathia/micrognathism/retrognathism" [Orphanet:3660]
OMIM: "Receding chin" [OMIM:Receding chin]
OMIM: "Retrognathia" [OMIM:Retrognathia]
OMIM: "Retrognathia (1 patient)" [OMIM:Retrognathia (1 patient)]
OMIM: "Retrognathia (37%)" [OMIM:Retrognathia (37%)]
OMIM: "Retrognathia (44%)" [OMIM:Retrognathia (44%)]
OMIM: "Retrognathia (rare)" [OMIM:Retrognathia (rare)]
OMIM: "Retrognathism" [OMIM:Retrognathism]
UMLS:C0035353 "Retrognathia" [HPO:0000278]
UMLS:C0035353 "Retrognathism" [Orphanet:3660]
Is a (Direct Parents):
MedDRA Musculoskeletal and connective tissue deformities of skull, face and buccal cavity
Orphanet Abnormal facial shape
HPO         Abnormality of the mandible
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 facial skeleton(HPO:0011821)
                   Abnormality of the mandible(HPO:0000277)
                      Retrognathia(HPO:0000278)
       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 facial skeleton(HPO:0011821)
                      Abnormality of the mandible(HPO:0000277)
                         Retrognathia(HPO:0000278)
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)
          Retrognathia(HPO:0000278)
Database Frequency: 100 / 7739
Resource:

All diseases associated with this symptom:

17q12 microdeletion syndrome (Orphanet:261265)
19q13.11 microdeletion syndrome (Orphanet:217346)
2p15p16.1 microdeletion syndrome (Orphanet:261349)
2q23.1 microdeletion syndrome (Orphanet:228402)
8q22.1 microdeletion syndrome (Orphanet:178303)
AURICULOCONDYLAR SYNDROME 3 (OMIM:615706)
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia (Orphanet:52055)
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16 (Orphanet:98791)
Autosomal dominant Robinow syndrome (Orphanet:3107)
Autosomal dominant nonsyndromic intellectual deficit (Orphanet:178469)
Autosomal recessive Robinow syndrome (Orphanet:1507)
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency (Orphanet:331176)
Autosomal recessive spastic paraplegia type 23 (Orphanet:101003)
BARAITSER-WINTER SYNDROME 2 (OMIM:614583)
BRANCHIOOTIC SYNDROME 1 (OMIM:602588)
Bangstad syndrome (Orphanet:1227)
Baraitser-Winter syndrome (Orphanet:2995)
Bifunctional enzyme deficiency (Orphanet:300)
Bilateral renal agenesis (Orphanet:1848)
Bird headed-dwarfism, Montreal type (Orphanet:2617)
Blackfan-Diamond anemia (Orphanet:124)
Bohring-Opitz syndrome (Orphanet:97297)
CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE III (OMIM:611929)
CARPENTER SYNDROME 2 (OMIM:614976)
CK syndrome (Orphanet:251383)
COLD-INDUCED SWEATING SYNDROME 1 (OMIM:272430)
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
CORNELIA DE LANGE SYNDROME 5 (OMIM:300882)
Cardiodysrhythmic potassium-sensitive periodic paralysis (Orphanet:37553)
Cold-induced sweating syndrome (Orphanet:157820)
Congenital myopathy with excess of thin filaments (Orphanet:98904)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (Orphanet:221145)
DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome (Orphanet:2229)
Distal monosomy 3p (Orphanet:1620)
FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES,AND SPONTANEOUS FILTERING BLEBS (OMIM:601552)
Fetal Gaucher disease (Orphanet:85212)
GCS1-CDG (Orphanet:79330)
Gamma-aminobutyric acid transaminase deficiency (Orphanet:2066)
Hennekam syndrome (Orphanet:2136)
Hurler-Scheie syndrome (Orphanet:93476)
Hypoglossia - hypodactyly (Orphanet:989)
Hypotonia with lactic acidemia and hyperammonemia (Orphanet:137908)
Hypotonia-cerebral atrophy-hyperglycinemia syndrome (Orphanet:363424)
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME2 (OMIM:614069)
Intellectual deficit, X-linked - dysmorphism - cerebral atrophy (Orphanet:2958)
Intellectual disability-developmental delay-contractures syndrome (Orphanet:3454)
Isolated ATP synthase deficiency (Orphanet:254913)
Jawad syndrome (Orphanet:313795)
KAGAMI-OGATA SYNDROME (OMIM:608149)
LAMBOTTE SYNDROME (OMIM:245552)
LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
LOEYS-DIETZ SYNDROME 4 (OMIM:614816)
Lethal faciocardiomelic dysplasia (Orphanet:1972)
Lethal polymalformative syndrome, Boissel type (Orphanet:210144)
Loeys-Dietz syndrome type 1 (Orphanet:60030)
MGAT2-CDG (Orphanet:79329)
MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:614673)
MICROCEPHALY, GROWTH RETARDATION, CATARACT, HEARING LOSS, AND UNUSUALAPPEARANCE (OMIM:612947)
MICROPHTHALMIA, SYNDROMIC 12 (OMIM:615524)
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 (OMIM:604273)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 7 (OMIM:614643)
MYOPATHY, CENTRONUCLEAR, 5 (OMIM:615959)
Mandibulofacial dysostosis - macroblepharon - macrostomia (Orphanet:357158)
Marfan syndrome type 1 (Orphanet:284963)
Marshall-Smith syndrome (Orphanet:561)
Menkes disease (Orphanet:565)
Mesomelic dwarfism - cleft palate - camptodactyly (Orphanet:2631)
Microcephalic osteodysplastic primordial dwarfism type 2 (Orphanet:2637)
Microphthalmia with brain and digit anomalies (Orphanet:139471)
Microphthalmia with limb anomalies (Orphanet:1106)
Mitochondrial myopathy and sideroblastic anemia (Orphanet:2598)
Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism (Orphanet:280679)
Myopathy, lactic acidosis, and sideroblastic anemia 1; MLASA1 (OMIM:600462)
Nager syndrome (Orphanet:245)
Nemaline myopathy (Orphanet:607)
Neonatal hemochromatosis (Orphanet:446)
Neuroectodermal syndrome, Johnson type (Orphanet:2316)
Noonan syndrome-like disorder with loose anagen hair (Orphanet:2701)
Orofaciodigital syndrome type 10 (Orphanet:2756)
PARC syndrome (Orphanet:2825)
PEHO syndrome (Orphanet:2836)
PEHO-like syndrome (Orphanet:99807)
Patterson-Stevenson-Fontaine syndrome (Orphanet:2439)
Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis (Orphanet:65288)
Primordial short stature - microdontia - opalescent and rootless teeth (Orphanet:46658)
RIENHOFF SYNDROME (OMIM:615582)
Rubinstein-Taybi syndrome due to CREBBP mutations (Orphanet:353277)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (Orphanet:353284)
SECKEL SYNDROME 4 (OMIM:613676)
SECKEL SYNDROME 5 (OMIM:613823)
SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIB (OMIM:615087)
TRICHORRHEXIS NODOSA SYNDROME (OMIM:275550)
URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
VELOCARDIOFACIAL SYNDROME (OMIM:192430)
WEBB-DATTANI SYNDROME (OMIM:615926)
WT limb-blood syndrome (Orphanet:3466)
Weaver syndrome (Orphanet:3447)
Wilson-Turner syndrome (Orphanet:3459)