Hypoplasia of the maxilla

Symptom Information:

Symptom ID: HPO:0000327
Synonyms:
Hypoplastic maxilla [HPO:0000327]
Hypoplastic maxillary bones [HPO:0000327]
Maxillar hypoplasia [HPO:0000327]
Maxillary hypoplasia [HPO:0000327]
Small maxilla [HPO:0000327]
Maxillary bone hypoplasia [Orphanet:3600]
Maxillary hypoplasia [Orphanet:3600]
Hypoplastic maxilla [OMIM:Hypoplastic maxilla]
Hypoplastic maxillary bones [OMIM:Hypoplastic maxillary bones]
Maxillar hypoplasia [OMIM:Maxillar hypoplasia]
Maxillary hypoplasia [OMIM:Maxillary hypoplasia]
Small maxilla [OMIM:Small maxilla]
Hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia [Orphanet:3600]
Micrognathia [MedDRA:10027543]
Maxillary hypoplasia [MedDRA:10027543]
Hypoplastic maxilla (in some patients) [OMIM:Hypoplastic maxilla (in some patients)]
Hypoplastic maxilla (uncommon) [OMIM:Hypoplastic maxilla (uncommon)]
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:0009117 "Aplasia/Hypoplasia of the maxilla" [Orphanet:3600]
Orphanet:3600 "Hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia" [Orphanet:3600]
OMIM: "Hypoplastic maxilla" [OMIM:Hypoplastic maxilla]
OMIM: "Hypoplastic maxillary bones" [OMIM:Hypoplastic maxillary bones]
OMIM: "Maxillar hypoplasia" [OMIM:Maxillar hypoplasia]
OMIM: "Maxillary hypoplasia" [OMIM:Maxillary hypoplasia]
OMIM: "Small maxilla" [OMIM:Small maxilla]
OMIM: "Hypoplastic maxilla (in some patients)" [OMIM:Hypoplastic maxilla (in some patients)]
OMIM: "Hypoplastic maxilla (uncommon)" [OMIM:Hypoplastic maxilla (uncommon)]
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):
HPO         Aplasia/Hypoplasia of the maxilla
Orphanet Abnormal facial shape
MedDRA Musculoskeletal and connective tissue disorders of face, neck and jaw congenital
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)
             Abnormal axial skeleton morphology(HPO:0009121)
                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)
                         Hypoplasia of the maxilla(HPO:0000327)
                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)
                            Hypoplasia of the maxilla(HPO:0000327)
                   Aplasia/Hypoplasia involving bones of the skull(HPO:0009116)
                      Aplasia/Hypoplasia of the maxilla(HPO:0009117)
                         Hypoplasia of the maxilla(HPO:0000327)
             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)
                         Hypoplasia of the maxilla(HPO:0000327)
       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)
                         Hypoplasia of the maxilla(HPO:0000327)
                Aplasia/Hypoplasia involving bones of the skull(HPO:0009116)
                   Aplasia/Hypoplasia of the maxilla(HPO:0009117)
                      Hypoplasia of the maxilla(HPO:0000327)
             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)
                         Hypoplasia of the maxilla(HPO:0000327)
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)
          Hypoplasia of the maxilla(HPO:0000327)
Database Frequency: 129 / 7739
Resource:

All diseases associated with this symptom:

17q12 microduplication syndrome (Orphanet:261272)
20p12.3 microdeletion syndrome (Orphanet:261295)
46,XX disorder of sex development - skeletal anomalies (Orphanet:2975)
8q22.1 microdeletion syndrome (Orphanet:178303)
AARSKOG SYNDROME, AUTOSOMAL DOMINANT (OMIM:100050)
AARSKOG-SCOTT SYNDROME (OMIM:305400)
ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVEFACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES (OMIM:109120)
AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
AXENFELD-RIEGER SYNDROME, TYPE 2 (OMIM:601499)
Aarskog-Scott syndrome (Orphanet:915)
Ablepharon macrostomia syndrome (Orphanet:920)
Absent tibia - polydactyly - arachnoid cyst (Orphanet:3328)
Acrodysostosis (Orphanet:950)
Acrodysostosis with multiple hormone resistance (Orphanet:280651)
Angelman syndrome (Orphanet:72)
Ankyloblepharon - ectodermal defects - cleft lip/palate (Orphanet:1071)
Anophthalmia - megalocornea - cardiopathy - skeletal anomalies (Orphanet:1101)
Apert syndrome (Orphanet:87)
Atelosteogenesis type III (Orphanet:56305)
Autosomal dominant Robinow syndrome (Orphanet:3107)
Autosomal recessive Robinow syndrome (Orphanet:1507)
Autosomal recessive Stickler syndrome (Orphanet:250984)
Autosomal recessive distal osteolysis syndrome (Orphanet:2776)
Axenfeld-Rieger syndrome (Orphanet:782)
Barber-Say syndrome (Orphanet:1231)
Bartsocas-Papas syndrome (Orphanet:1234)
Brachyolmia-amelogenesis imperfecta syndrome (Orphanet:2899)
Branchio-skeleto-genital syndrome (Orphanet:1299)
COWDEN SYNDROME 5 (OMIM:615108)
COWDEN SYNDROME 6 (OMIM:615109)
Cardiodysrhythmic potassium-sensitive periodic paralysis (Orphanet:37553)
Carpenter syndrome (Orphanet:65759)
Cataract - intellectual deficit - hypogonadism (Orphanet:1387)
Cerebro-facio-articular syndrome (Orphanet:314679)
Cerebro-facio-thoracic dysplasia (Orphanet:1394)
Coffin-Lowry syndrome (Orphanet:192)
Cohen syndrome (Orphanet:193)
Congenital contractural arachnodactyly (Orphanet:115)
Corpus callosum agenesis - neuronopathy (Orphanet:1496)
Cowden syndrome (Orphanet:201)
Cranioectodermal dysplasia 3 (OMIM:614099)
Craniofacial-deafness-hand syndrome (Orphanet:1529)
Craniolenticulosutural dysplasia (Orphanet:50814)
Craniosynostosis - intracranial calcifications (Orphanet:52054)
Craniosynostosis and dental anomalies (Orphanet:284149)
Crouzon disease (Orphanet:207)
Crouzon syndrome - acanthosis nigricans (Orphanet:93262)
Distal limb deficiencies - micrognathia syndrome (Orphanet:1307)
Distal monosomy 19p13.3 (Orphanet:96129)
Dyskeratosis congenita (Orphanet:1775)
Dysostosis, Stanescu type (Orphanet:1798)
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1 (OMIM:129900)
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME3 (OMIM:604292)
EEC syndrome (Orphanet:1896)
Ear-patella-short stature syndrome (Orphanet:2554)
FACIAL PARESIS, HEREDITARY CONGENITAL, 3 (OMIM:614744)
FANCONI ANEMIA, COMPLEMENTATION GROUP P (OMIM:613951)
Familial scaphocephaly syndrome, McGillivray type (Orphanet:168624)
Frontonasal dysplasia (Orphanet:250)
Geroderma osteodysplastica (Orphanet:2078)
Glaucoma - ectopia - microspherophakia - stiff joints - short stature (Orphanet:2084)
Goldberg-Shprintzen megacolon syndrome (Orphanet:66629)
Goldenhar syndrome (Orphanet:374)
Gorlin-Chaudhry-Moss syndrome (Orphanet:2095)
Greenberg dysplasia (Orphanet:1426)
HOLOPROSENCEPHALY 7 (OMIM:610828)
HOLOPROSENCEPHALY 9 (OMIM:610829)
Hemifacial hypertrophy (Orphanet:141145)
Hypohidrotic ectodermal dysplasia (Orphanet:238468)
Hypomandibular faciocranial dysostosis (Orphanet:1790)
Intellectual deficit - cataracts - calcified pinnae - myopathy (Orphanet:3042)
Intellectual deficit, X-linked - craniofacioskeletal syndrome (Orphanet:163979)
Jackson-Weiss syndrome (Orphanet:1540)
KAGAMI-OGATA SYNDROME (OMIM:608149)
Keipert syndrome (Orphanet:2662)
LUJAN-FRYNS SYNDROME (OMIM:309520)
Larsen-like syndrome, B3GAT3 type (Orphanet:284139)
Lhermitte-Duclos disease (Orphanet:65285)
Lipodystrophy - intellectual deficit - deafness (Orphanet:50811)
MEIER-GORLIN SYNDROME 1 (OMIM:224690)
MEIER-GORLIN SYNDROME 3 (OMIM:613803)
MEIER-GORLIN SYNDROME 4 (OMIM:613804)
MEIER-GORLIN SYNDROME 5 (OMIM:613805)
MENTAL RETARDATION, X-LINKED, SYNDROMIC 14 (OMIM:300676)
MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Mandibulofacial dysostosis-microcephaly syndrome (Orphanet:79113)
Marshall syndrome (Orphanet:560)
Maxillo-nasal dysplasia (Orphanet:1248)
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty (Orphanet:2504)
Methylmalonic acidemia with homocystinuria, type cblJ (Orphanet:369955)
Microcephaly-capillary malformation syndrome (Orphanet:294016)
Moebius syndrome (Orphanet:570)
Multicentric carpo-tarsal osteolysis with or without nephropathy (Orphanet:2774)
Myhre syndrome (Orphanet:2588)
Myopathy, lactic acidosis, and sideroblastic anemia 1; MLASA1 (OMIM:600462)
Nager syndrome (Orphanet:245)
Nasopalpebral lipoma - coloboma - telecanthus (Orphanet:2399)
OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Oculoosteocutaneous syndrome (Orphanet:2713)
Orofaciodigital syndrome type 2 (Orphanet:2751)
PGM1-CDG (Orphanet:319646)
Pfeiffer syndrome (Orphanet:710)
Proteus-like syndrome (Orphanet:2969)
Ptosis - upper ocular movement limitation - absence of lacrimal punctum (Orphanet:228396)
RAPP-HODGKIN SYNDROME (OMIM:129400)
Rubinstein-Taybi syndrome due to CREBBP mutations (Orphanet:353277)
SPONDYLOSPINAL THORACIC DYSOSTOSIS (OMIM:601809)
Saethre-Chotzen syndrome (Orphanet:794)
Sakati-Nyhan syndrome (Orphanet:3128)
Shprintzen-Goldberg syndrome (Orphanet:2462)
Singleton-Merten dysplasia (Orphanet:85191)
Stickler syndrome (Orphanet:828)
Stickler syndrome type 1 (Orphanet:90653)
Subaortic stenosis - short stature (Orphanet:3191)
Syndromic X-linked intellectual deficit due to JARID1C mutation (Orphanet:85279)
Timothy syndrome (Orphanet:65283)
Torg-Winchester syndrome (Orphanet:3460)
Treacher-Collins syndrome (Orphanet:861)
VAN MALDERGEM SYNDROME 1 (OMIM:601390)
VAN MALDERGEM SYNDROME 2 (OMIM:615546)
Van den Ende-Gupta syndrome (Orphanet:2460)
WEILL-MARCHESANI SYNDROME 1 (OMIM:277600)
Weill-Marchesani syndrome (Orphanet:3449)
X-linked hypohidrotic ectodermal dysplasia (Orphanet:181)
X-linked intellectual deficit with marfanoid habitus (Orphanet:776)
X-linked spastic paraplegia type 16 (Orphanet:100997)
X-linked spondyloepimetaphyseal dysplasia (Orphanet:93349)