Aplasia/Hypoplasia of the maxilla

Symptom Information:

Symptom ID: HPO:0009117
Synonyms:
Maxillary bone hypoplasia [Orphanet:3600]
Maxillary hypoplasia [Orphanet:3600]
Hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia [Orphanet:3600]
Micrognathia [MedDRA:10027543]
Maxillary hypoplasia [MedDRA:10027543]
Maxillary hypoplasia (in some patients) [OMIM:Maxillary hypoplasia (in some patients)]
Micrognathia (1 family) [OMIM:Micrognathia (1 family)]
Micrognathia (1 patient) [OMIM:Micrognathia (1 patient)]
Micrognathia (27%) [OMIM:Micrognathia (27%)]
Micrognathia (57%) [OMIM:Micrognathia (57%)]
Micrognathia (64% of patients) [OMIM:Micrognathia (64% of patients)]
Micrognathia (68%) [OMIM:Micrognathia (68%)]
Micrognathia (in 2/4 patients) [OMIM:Micrognathia (in 2/4 patients)]
Micrognathia (in some patients) [OMIM:Micrognathia (in some patients)]
Micrognathia (male and female) [OMIM:Micrognathia (male and female)]
Micrognathia (rare) [OMIM:Micrognathia (rare)]
Micrognathia (uncommon) [OMIM:Micrognathia (uncommon)]
Quality:
Cross references:
HPO:0000327 "Hypoplasia of the maxilla" [Orphanet:3600]
Orphanet:3600 "Hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia" [Orphanet:3600]
OMIM: "Maxillary hypoplasia (in some patients)" [OMIM:Maxillary hypoplasia (in some patients)]
OMIM: "Micrognathia (1 family)" [OMIM:Micrognathia (1 family)]
OMIM: "Micrognathia (1 patient)" [OMIM:Micrognathia (1 patient)]
OMIM: "Micrognathia (27%)" [OMIM:Micrognathia (27%)]
OMIM: "Micrognathia (57%)" [OMIM:Micrognathia (57%)]
OMIM: "Micrognathia (64% of patients)" [OMIM:Micrognathia (64% of patients)]
OMIM: "Micrognathia (68%)" [OMIM:Micrognathia (68%)]
OMIM: "Micrognathia (in 2/4 patients)" [OMIM:Micrognathia (in 2/4 patients)]
OMIM: "Micrognathia (in some patients)" [OMIM:Micrognathia (in some patients)]
OMIM: "Micrognathia (male and female)" [OMIM:Micrognathia (male and female)]
OMIM: "Micrognathia (rare)" [OMIM:Micrognathia (rare)]
OMIM: "Micrognathia (uncommon)" [OMIM:Micrognathia (uncommon)]
UMLS:C0240310 "Maxillary hypoplasia" [Orphanet:3600]
Is a (Direct Parents):
Orphanet Abnormal facial shape
MedDRA Musculoskeletal and connective tissue disorders of face, neck and jaw congenital
HPO         Abnormality of the maxilla
HPO         Aplasia/Hypoplasia involving bones of the skull
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       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 maxilla(HPO:0009117)
             Abnormal axial skeleton morphology(HPO:0009121)
                Abnormality of the skull(HPO:0000929)
                   Abnormality of facial skeleton(HPO:0011821)
                      Abnormality of the maxilla(HPO:0000326)
                         Aplasia/Hypoplasia of the maxilla(HPO:0009117)
                   Aplasia/Hypoplasia involving bones of the skull(HPO:0009116)
                      Aplasia/Hypoplasia of the maxilla(HPO:0009117)
                Aplasia/hypoplasia affecting bones of the axial skeleton(HPO:0009122)
                   Aplasia/Hypoplasia involving bones of the skull(HPO:0009116)
                      Aplasia/Hypoplasia of the maxilla(HPO:0009117)
       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 maxilla(HPO:0000326)
                      Aplasia/Hypoplasia of the maxilla(HPO:0009117)
                Aplasia/Hypoplasia involving bones of the skull(HPO:0009116)
                   Aplasia/Hypoplasia of the maxilla(HPO:0009117)
             Abnormality of the face(HPO:0000271)
                Abnormality of the midface(HPO:0000309)
                   Abnormality of the maxilla(HPO:0000326)
                      Aplasia/Hypoplasia of the maxilla(HPO:0009117)
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)
          Aplasia/Hypoplasia of the maxilla(HPO:0009117)
Database Frequency: 18 / 7739
Resource:

All diseases associated with this symptom:

17q12 microduplication syndrome (Orphanet:261272)
Autosomal dominant Robinow syndrome (Orphanet:3107)
Autosomal recessive Robinow syndrome (Orphanet:1507)
Barber-Say syndrome (Orphanet:1231)
Cardiodysrhythmic potassium-sensitive periodic paralysis (Orphanet:37553)
Congenital contractural arachnodactyly (Orphanet:115)
Cranioectodermal dysplasia 3 (OMIM:614099)
Distal limb deficiencies - micrognathia syndrome (Orphanet:1307)
FACIAL PARESIS, HEREDITARY CONGENITAL, 3 (OMIM:614744)
FANCONI ANEMIA, COMPLEMENTATION GROUP P (OMIM:613951)
Intellectual deficit, X-linked - craniofacioskeletal syndrome (Orphanet:163979)
Larsen-like syndrome, B3GAT3 type (Orphanet:284139)
MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Methylmalonic acidemia with homocystinuria, type cblJ (Orphanet:369955)
Moebius syndrome (Orphanet:570)
Myopathy, lactic acidosis, and sideroblastic anemia 1; MLASA1 (OMIM:600462)
PGM1-CDG (Orphanet:319646)