Midface retrusion

Symptom Information:

Symptom ID: HPO:0011800
Synonyms:
Midface hypoplasia [HPO:0011800]
Midface hypoplasia [OMIM:Midface hypoplasia]
Midface retrusion [OMIM:Midface retrusion]
Mid-facial hypoplasia/short/small midface [Orphanet:3480]
Midface hypoplasia (1 patient) [OMIM:Midface hypoplasia (1 patient)]
Midface hypoplasia (81%) [OMIM:Midface hypoplasia (81%)]
Midface hypoplasia (94%) [OMIM:Midface hypoplasia (94%)]
Midface hypoplasia (in some patients) [OMIM:Midface hypoplasia (in some patients)]
Midface retrusion (in some patients) [OMIM:Midface retrusion (in some patients)]
Quality:
Cross references:
Orphanet:3480 "Mid-facial hypoplasia/short/small midface" [Orphanet:3480]
OMIM: "Midface hypoplasia" [OMIM:Midface hypoplasia]
OMIM: "Midface retrusion" [OMIM:Midface retrusion]
OMIM: "Midface hypoplasia (1 patient)" [OMIM:Midface hypoplasia (1 patient)]
OMIM: "Midface hypoplasia (81%)" [OMIM:Midface hypoplasia (81%)]
OMIM: "Midface hypoplasia (94%)" [OMIM:Midface hypoplasia (94%)]
OMIM: "Midface hypoplasia (in some patients)" [OMIM:Midface hypoplasia (in some patients)]
OMIM: "Midface retrusion (in some patients)" [OMIM:Midface retrusion (in some patients)]
Is a (Direct Parents):
HPO         Abnormality of the midface
Orphanet Abnormal facial shape
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 midface(HPO:0000309)
                   Midface retrusion(HPO:0011800)
MedDRA:
Database Frequency: 221 / 7739
Resource:

All diseases associated with this symptom:

14q22q23 microdeletion syndrome (Orphanet:264200)
16p13.3 microduplication syndrome (Orphanet:96078)
17q21.31 microduplication syndrome (Orphanet:217340)
17q23.1q23.2 microdeletion syndrome (Orphanet:261279)
1p36 deletion syndrome (Orphanet:1606)
22q11.2 microduplication syndrome (Orphanet:1727)
2q23.1 microdeletion syndrome (Orphanet:228402)
2q32q33 microdeletion syndrome (Orphanet:251019)
2q37 microdeletion syndrome (Orphanet:1001)
3M syndrome (Orphanet:2616)
6q25 microdeletion syndrome (Orphanet:251056)
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:614613)
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
AXENFELD-RIEGER SYNDROME, TYPE 3 (OMIM:602482)
Achondroplasia (Orphanet:15)
Acro-fronto-facio-nasal dysostosis (Orphanet:1784)
Acro-osteolysis-keloid-like lesions-premature aging syndrome (Orphanet:363665)
Acrodysostosis (Orphanet:950)
Acrofacial dysostosis, Palagonia type (Orphanet:1787)
Alpha-mannosidosis (Orphanet:61)
Alpha-thalassemia - X-linked intellectual deficit syndrome (Orphanet:847)
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16 (Orphanet:98791)
Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis (Orphanet:86818)
Antley-Bixler syndrome (Orphanet:83)
Apert syndrome (Orphanet:87)
Arrhinia - choanal atresia - microphthalmia (Orphanet:1135)
Atelosteogenesis type I (Orphanet:1190)
Atelosteogenesis type II (Orphanet:56304)
Atelosteogenesis type III (Orphanet:56305)
Autosomal dominant Robinow syndrome (Orphanet:3107)
Autosomal dominant omodysplasia (Orphanet:93328)
Autosomal recessive Robinow syndrome (Orphanet:1507)
Autosomal recessive cutis laxa type 2, classic type (Orphanet:357074)
Autosomal recessive cutis laxa type 2A (Orphanet:357058)
Autosomal recessive cutis laxa type 2B (Orphanet:357064)
Autosomal recessive distal osteolysis syndrome (Orphanet:2776)
Axenfeld-Rieger syndrome (Orphanet:782)
BARATELA-SCOTT SYNDROME (OMIM:300881)
Beckwith-Wiedemann syndrome (Orphanet:116)
Blepharophimosis-intellectual deficit syndrome, Verloes type (Orphanet:293725)
CARPENTER SYNDROME 1 (OMIM:201000)
CARPENTER SYNDROME 2 (OMIM:614976)
CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKEFACIAL APPEARANCE, SHORT STATURE, AND MENTAL RETARDATION (OMIM:601088)
CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
COLE-CARPENTER SYNDROME 2 (OMIM:616294)
CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG (OMIM:218649)
CULLER-JONES SYNDROME (OMIM:615849)
Camptodactyly syndrome, Guadalajara type 1 (Orphanet:1327)
Carpenter syndrome (Orphanet:65759)
Carpenter-Waziri syndrome (Orphanet:93973)
Cataract - intellectual deficit - hypogonadism (Orphanet:1387)
Cerebro-facio-articular syndrome (Orphanet:314679)
Cerebro-facio-thoracic dysplasia (Orphanet:1394)
Chondrodysplasia punctata, tibial-metacarpal type (Orphanet:79346)
Chudley-Lowry-Hoar syndrome (Orphanet:93971)
Cleidocranial dysplasia (Orphanet:1452)
Cole-Carpenter syndrome (Orphanet:2050)
Congenital lactic acidosis, Saguenay-Lac-St. Jean type (Orphanet:70472)
Corneal anesthesia - deafness - intellectual deficit (Orphanet:1051)
Craniofacial dyssynostosis (Orphanet:1516)
Craniofacial dyssynostosis (Orphanet:1516)
Craniolenticulosutural dysplasia (Orphanet:50814)
Craniosynostosis - anal anomalies - porokeratosis (Orphanet:85199)
Craniosynostosis - fibular aplasia (Orphanet:1533)
Craniosynostosis - hydrocephalus - Chiari I malformation - radioulnar synostosis (Orphanet:171839)
Crouzon syndrome - acanthosis nigricans (Orphanet:93262)
Cutis gyrata - acanthosis nigricans - craniosynostosis (Orphanet:1555)
Cutis laxa (Orphanet:209)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (Orphanet:221145)
DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS (OMIM:300946)
DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS (OMIM:606164)
Delayed membranous cranial ossification (Orphanet:3034)
Desbuquois syndrome (Orphanet:1425)
Distal monosomy 6p (Orphanet:96125)
Distal monosomy 9p (Orphanet:1642)
Donnai-Barrow syndrome (Orphanet:2143)
Dysostosis, Stanescu type (Orphanet:1798)
Dyssegmental dysplasia, Rolland-Desbuquois type (Orphanet:156731)
ECTODERMAL DYSPLASIA, SENSORINEURAL HEARING LOSS, AND DISTINCTIVEFACIAL FEATURES (OMIM:609944)
Ehlers-Danlos syndrome type 7A (Orphanet:99875)
Ehlers-Danlos syndrome type 7B (Orphanet:99876)
Ehlers-Danlos syndrome, arthrochalasic type (Orphanet:1899)
Endocrine-cerebro-osteodysplasia syndrome (Orphanet:199332)
FACIAL PARESIS, HEREDITARY CONGENITAL, 3 (OMIM:614744)
FGFR2-related bent bone dysplasia (Orphanet:313855)
FIBROCHONDROGENESIS 2 (OMIM:614524)
FRONTOFACIONASAL DYSPLASIA (OMIM:229400)
Fabry disease (Orphanet:324)
Familial lambdoid synostosis (Orphanet:3267)
Familial scaphocephaly syndrome, McGillivray type (Orphanet:168624)
Fetal trimethadione syndrome (Orphanet:1913)
Fountain syndrome (Orphanet:3219)
Fronto-facio-nasal dysostosis (Orphanet:1791)
GAPO syndrome (Orphanet:2067)
Galloway-Mowat syndrome (Orphanet:2065)
German syndrome (Orphanet:2077)
Glycogen storage disease due to glycogen debranching enzyme deficiency (Orphanet:366)
Gorlin-Chaudhry-Moss syndrome (Orphanet:2095)
Greenberg dysplasia (Orphanet:1426)
Gómez-López-Hernández syndrome (Orphanet:1532)
HOLOPROSENCEPHALY 2 (OMIM:157170)
HOLOPROSENCEPHALY 3 (OMIM:142945)
HOLOPROSENCEPHALY 9 (OMIM:610829)
HUNTER-MACDONALD SYNDROME (OMIM:611962)
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 (OMIM:239300)
Holmes-Gang syndrome (Orphanet:93970)
Holoprosencephaly (Orphanet:2162)
Hutchinson-Gilford progeria syndrome (Orphanet:740)
Hyperphosphatasia-intellectual deficiency syndrome (Orphanet:247262)
Hypomandibular faciocranial dysostosis (Orphanet:1790)
Hypospadias - hypertelorism - coloboma and deafness (Orphanet:157788)
Hypospadias - intellectual deficit, Goldblatt type (Orphanet:2261)
Intellectual deficit - athetosis - microphthalmia (Orphanet:1236)
Intellectual deficit - cataracts - calcified pinnae - myopathy (Orphanet:3042)
Intellectual deficit, X-linked, Armfield type (Orphanet:85276)
Intellectual deficit, X-linked, Nascimento type (Orphanet:163956)
Isolated brachycephaly (Orphanet:35099)
Isolated cloverleaf skull syndrome (Orphanet:2343)
Isolated plagiocephaly (Orphanet:35098)
Jackson-Weiss syndrome (Orphanet:1540)
Juberg-Marsidi syndrome (Orphanet:93972)
Keutel syndrome (Orphanet:85202)
Kleefstra syndrome (Orphanet:261494)
Kleefstra syndrome due to 9q34 microdeletion (Orphanet:96147)
Kniest dysplasia (Orphanet:485)
Kniest dysplasia (Orphanet:485)
Knobloch syndrome (Orphanet:1571)
LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Lethal Kniest-like dysplasia (Orphanet:2347)
Lethal osteosclerotic bone dysplasia (Orphanet:1832)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 27 (OMIM:615866)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27 (OMIM:614340)
MIDFACE HYPOPLASIA, OBESITY, DEVELOPMENTAL DELAY, AND NEONATAL HYPOTONIA (OMIM:608624)
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 3 (OMIM:253280)
MYELODYSPLASIA, IMMUNODEFICIENCY, FACIAL DYSMORPHISM, SHORT STATURE,AND PSYCHOMOTOR DELAY (OMIM:601347)
Macrocephaly - short stature - paraplegia (Orphanet:2427)
Malignant hyperthermia - arthrogryposis - torticollis (Orphanet:2215)
Mandibulofacial dysostosis-microcephaly syndrome (Orphanet:79113)
Marshall syndrome (Orphanet:560)
Marshall-Smith syndrome (Orphanet:561)
Maternal hyperthermia induced birth defects (Orphanet:2216)
Maxillo-nasal dysplasia (Orphanet:1248)
Metaphyseal acroscyphodysplasia (Orphanet:1240)
Microphthalmia with brain and digit anomalies (Orphanet:139471)
Microphthalmia with linear skin defects syndrome (Orphanet:2556)
Monosomy 18q (Orphanet:1600)
Monosomy 18q (Orphanet:1600)
Monosomy 9p (Orphanet:261112)
Mosaic variegated aneuploidy syndrome (Orphanet:1052)
Muenke syndrome (Orphanet:53271)
Mullerian derivatives - lymphangiectasia - polydactyly (Orphanet:1655)
Myhre syndrome (Orphanet:2588)
NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Nager syndrome (Orphanet:245)
Nestor-Guillermo progeria syndrome (Orphanet:280576)
Noonan syndrome (Orphanet:648)
OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
OSTEOGENESIS IMPERFECTA, TYPE XII (OMIM:613849)
Okamoto syndrome (Orphanet:2729)
Osteocraniostenosis (Orphanet:2763)
Osteoglophonic dwarfism (Orphanet:2645)
Otopalatodigital syndrome (Orphanet:669)
Otopalatodigital syndrome type 2 (Orphanet:90652)
Otospondylomegaepiphyseal dysplasia (Orphanet:1427)
PECTUS EXCAVATUM, MACROCEPHALY, SHORT STATURE, AND DYSPLASTIC NAILS (OMIM:600399)
PEHO syndrome (Orphanet:2836)
PITUITARY HORMONE DEFICIENCY, COMBINED, 1 (OMIM:613038)
PLANTAR LIPOMATOSIS, UNUSUAL FACIES, AND DEVELOPMENTAL DELAY (OMIM:602342)
Pfeiffer syndrome type 1 (Orphanet:93258)
Pfeiffer syndrome type 2 (Orphanet:93259)
Pfeiffer syndrome type 3 (Orphanet:93260)
Phocomelia - ectrodactyly - deafness - sinus arrhythmia (Orphanet:2878)
Platyspondylic dysplasia, Torrance type (Orphanet:85166)
Poikiloderma with neutropenia (Orphanet:221046)
Pontocerebellar hypoplasia, type 9 (OMIM:615809)
Proximal 16p11.2 microdeletion syndrome (Orphanet:261197)
Pseudodiastrophic dysplasia (Orphanet:85174)
Pycnodysostosis (Orphanet:763)
RIENHOFF SYNDROME (OMIM:615582)
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Recombinant 8 syndrome (Orphanet:96167)
Renier-Gabreels-Jasper syndrome (Orphanet:93975)
SCLEROSTEOSIS 1 (OMIM:269500)
SHORT syndrome (Orphanet:3163)
SPONASTRIME dysplasia (Orphanet:93357)
Schinzel-Giedion syndrome (Orphanet:798)
Schneckenbecken dysplasia (Orphanet:3144)
Sclerosteosis (Orphanet:3152)
Severe intellectual deficit - epilepsy - anal anomalies - distal phalangeal hypoplasia (Orphanet:94066)
Short-rib thoracic dysplasia 13 with or without polydactyly (OMIM:616300)
Smith-Fineman-Myers syndrome (Orphanet:93974)
Smith-Magenis syndrome (Orphanet:819)
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification (Orphanet:93358)
Spondyloepimetaphyseal dysplasia with joint laxity (Orphanet:93359)
Spondyloepimetaphyseal dysplasia with multiple dislocations (Orphanet:93360)
Spondyloepimetaphyseal dysplasia, Bieganski type (Orphanet:168448)
Spondyloepiphyseal dysplasia, Cantu type (Orphanet:163654)
Spondyloperipheral dysplasia - short ulna (Orphanet:1856)
Stickler syndrome (Orphanet:828)
Stickler syndrome type 2 (Orphanet:90654)
Stickler syndrome type 3 (Orphanet:166100)
Stiff skin syndrome (Orphanet:2833)
Stüve-Wiedemann syndrome (Orphanet:3206)
Subaortic stenosis - short stature (Orphanet:3191)
THREE M SYNDROME 3 (OMIM:614205)
TMEM165-CDG (Orphanet:314667)
Thanatophoric dysplasia (Orphanet:2655)
Treacher-Collins syndrome (Orphanet:861)
Trisomy 17p (Orphanet:261290)
Ulnar/fibula ray defect - brachydactyly (Orphanet:52056)
VAN MALDERGEM SYNDROME 2 (OMIM:615546)
WHISTLING FACE SYNDROME, RECESSIVE FORM (OMIM:277720)
Williams syndrome (Orphanet:904)
X-linked creatine transporter deficiency (Orphanet:52503)
X-linked intellectual deficit - hypotonic face (Orphanet:73220)
Yunis-Varon syndrome (Orphanet:3472)
Zechi-Ceide syndrome (Orphanet:217017)
Zlotogora-Ogur syndrome (Orphanet:3253)
[DEL] NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)