Microretrognathia

Symptom Information:

Symptom ID: HPO:0000308
Synonyms:
Retromicrognathia [HPO:0000308]
Mandibular hypoplasia [Orphanet:3680]
Microretrognathia [OMIM:Microretrognathia]
Retromicrognathia [OMIM:Retromicrognathia]
Hypoplastic mandibula/partial absence of the mandibula [Orphanet:3680]
Microgenia [MedDRA:10027541]
Mandibular hypoplasia [MedDRA:10027541]
Microretrognathia (in some patients) [OMIM:Microretrognathia (in some patients)]
Quality:
Cross references:
HPO:0000347 "Micrognathia" [Orphanet:3680]
HPO:0000331 "Small chin" [Orphanet:3680]
Orphanet:3680 "Hypoplastic mandibula/partial absence of the mandibula" [Orphanet:3680]
OMIM: "Microretrognathia" [OMIM:Microretrognathia]
OMIM: "Retromicrognathia" [OMIM:Retromicrognathia]
OMIM: "Microretrognathia (in some patients)" [OMIM:Microretrognathia (in some patients)]
UMLS:C1839546 "Microretrognathia" [HPO:0000308]
UMLS:C0240295 "Mandibular hypoplasia" [Orphanet:3680]
Is a (Direct Parents):
Orphanet Abnormal facial shape
MedDRA Musculoskeletal and connective tissue disorders of face, neck and jaw congenital
HPO         Retrognathia
HPO         Micrognathia
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)
                Aplasia/Hypoplasia involving bones of the skull(HPO:0009116)
                   Aplasia/Hypoplasia of the mandible(HPO:0009118)
                      Micrognathia(HPO:0000347)
                         Microretrognathia(HPO:0000308)
                Abnormality of facial skeleton(HPO:0011821)
                   Abnormality of the mandible(HPO:0000277)
                      Aplasia/Hypoplasia of the mandible(HPO:0009118)
                         Micrognathia(HPO:0000347)
                            Microretrognathia(HPO:0000308)
                      Retrognathia(HPO:0000278)
                         Microretrognathia(HPO:0000308)
       Abnormality of the skeletal system(HPO:0000924)
          Abnormality of skeletal morphology(HPO:0011842)
             Aplasia/hypoplasia involving the skeleton(HPO:0009115)
                Aplasia/hypoplasia affecting bones of the axial skeleton(HPO:0009122)
                   Aplasia/Hypoplasia involving bones of the skull(HPO:0009116)
                      Aplasia/Hypoplasia of the mandible(HPO:0009118)
                         Micrognathia(HPO:0000347)
                            Microretrognathia(HPO:0000308)
             Abnormal axial skeleton morphology(HPO:0009121)
                Abnormality of the skull(HPO:0000929)
                   Aplasia/Hypoplasia involving bones of the skull(HPO:0009116)
                      Aplasia/Hypoplasia of the mandible(HPO:0009118)
                         Micrognathia(HPO:0000347)
                            Microretrognathia(HPO:0000308)
                   Abnormality of facial skeleton(HPO:0011821)
                      Abnormality of the mandible(HPO:0000277)
                         Aplasia/Hypoplasia of the mandible(HPO:0009118)
                            Micrognathia(HPO:0000347)
                               Microretrognathia(HPO:0000308)
                         Retrognathia(HPO:0000278)
                            Microretrognathia(HPO:0000308)
                Aplasia/hypoplasia affecting bones of the axial skeleton(HPO:0009122)
                   Aplasia/Hypoplasia involving bones of the skull(HPO:0009116)
                      Aplasia/Hypoplasia of the mandible(HPO:0009118)
                         Micrognathia(HPO:0000347)
                            Microretrognathia(HPO:0000308)
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)
          Microretrognathia(HPO:0000308)
Database Frequency: 78 / 7739
Resource:

All diseases associated with this symptom:

15q24 microdeletion syndrome (Orphanet:94065)
46,XX disorder of sex development - skeletal anomalies (Orphanet:2975)
Acro-renal-mandibular syndrome (Orphanet:958)
Acrocallosal syndrome (Orphanet:36)
Acroosteolysis, dominant type (Orphanet:955)
Agnathia - holoprosencephaly - situs inversus (Orphanet:990)
Autism spectrum disorder-epilepsy-arthrogryposis syndrome (Orphanet:370943)
Autosomal recessive amelia (Orphanet:1027)
Bangstad syndrome (Orphanet:1227)
Bloom syndrome (Orphanet:125)
CHROMOSOME 4q32.1-q32.2 TRIPLICATION SYNDROME (OMIM:613603)
COLE-CARPENTER SYNDROME 2 (OMIM:616294)
Catel-Manzke syndrome (Orphanet:1388)
Cleft palate-lateral synechia syndrome (Orphanet:2016)
Cleidocranial dysplasia (Orphanet:1452)
Congenital intrauterine infection-like syndrome (Orphanet:1229)
Cortical blindness - intellectual deficit - polydactyly (Orphanet:1389)
DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Dandy-Walker malformation - postaxial polydactyly (Orphanet:1566)
Desbuquois syndrome (Orphanet:1425)
Distal limb deficiencies - micrognathia syndrome (Orphanet:1307)
Dysostosis, Stanescu type (Orphanet:1798)
Ear-patella-short stature syndrome (Orphanet:2554)
Ehlers-Danlos syndrome, musculocontractural type (Orphanet:2953)
Fetal Gaucher disease (Orphanet:85212)
Fibulo-ulnar hypoplasia - renal anomalies (Orphanet:2256)
Fryns syndrome (Orphanet:2059)
GAPO syndrome (Orphanet:2067)
Goldenhar syndrome (Orphanet:374)
Hallermann-Streiff syndrome (Orphanet:2108)
Hypoglossia - hypodactyly (Orphanet:989)
Hypomandibular faciocranial dysostosis (Orphanet:1790)
Langer mesomelic dysplasia (Orphanet:2632)
Langer-Giedion syndrome (Orphanet:502)
Larsen-like syndrome, B3GAT3 type (Orphanet:284139)
Lethal osteosclerotic bone dysplasia (Orphanet:1832)
MEIER-GORLIN SYNDROME 3 (OMIM:613803)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 (OMIM:616268)
Mandibuloacral dysplasia (Orphanet:2457)
Mandibuloacral dysplasia with type B lipodystrophy (Orphanet:90154)
Menkes disease (Orphanet:565)
Mesomelia-synostoses syndrome (Orphanet:2496)
Mesomelic dwarfism - cleft palate - camptodactyly (Orphanet:2631)
Metaphyseal chondrodysplasia, Jansen type (Orphanet:33067)
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 5p (Orphanet:281)
Myopathy, lactic acidosis, and sideroblastic anemia 1; MLASA1 (OMIM:600462)
Neonatal hemochromatosis (Orphanet:446)
Non-rhizomelic chondrodysplasia punctata (Orphanet:176)
OTOFACIOCERVICAL SYNDROME 2 (OMIM:615560)
Oculo-skeletal-renal syndrome (Orphanet:2716)
Oculoauriculovertebral spectrum with radial defects (Orphanet:2549)
Oligodontia (Orphanet:99798)
Ophthalmomandibulomelic dysplasia (Orphanet:2741)
Orofaciodigital syndrome type 1 (Orphanet:2750)
Orofaciodigital syndrome type 4 (Orphanet:2753)
Osteodysplasty, Melnick-Needles type (Orphanet:2484)
Otopalatodigital syndrome (Orphanet:669)
PARC syndrome (Orphanet:2825)
PGM1-CDG (Orphanet:319646)
Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis (Orphanet:65288)
Peters anomaly (Orphanet:708)
Polyvalvular heart disease syndrome (Orphanet:228410)
Premature ageing appearance-developmental delay-cardiac arrhythmia syndrome (Orphanet:276432)
Progressive hemifacial atrophy (Orphanet:1214)
Pycnodysostosis (Orphanet:763)
Pyruvate dehydrogenase E1-alpha deficiency (Orphanet:79243)
Richieri Costa-Pereira syndrome (Orphanet:3102)
Short stature - craniofacial anomalies - genital hypoplasia (Orphanet:2994)
Short stature, Brussels type (Orphanet:2867)
Short-rib thoracic dysplasia 13 with or without polydactyly (OMIM:616300)
Shoulder and girdle defects - familial intellectual deficit (Orphanet:2580)
Splenogonadal fusion - limb defects - micrognathia (Orphanet:2063)
Torticollis - keloids - cryptorchidism - renal dysplasia (Orphanet:3341)
Treacher-Collins syndrome (Orphanet:861)
Verloove Vanhorick-Brubakk syndrome (Orphanet:3429)