Micrognathia

Symptom Information:

Symptom ID: HPO:0000347
Synonyms:
Hypoplastic mandible [HPO:0000347]
Hypoplastic mandible condyle [HPO:0000347]
Mandibular hypoplasia [HPO:0000347]
Small jaw [HPO:0000347]
Small mandible [HPO:0000347]
Mandibular hypoplasia [Orphanet:3680]
Congenital micrognathism [HPO:0000347]
Congenital micrognathism (disorder) [Orphanet:3660]
Micrognathism [Orphanet:3660]
Hypoplastic mandible [OMIM:Hypoplastic mandible]
Hypoplastic mandible condyle [OMIM:Hypoplastic mandible condyle]
Mandibular hypoplasia [OMIM:Mandibular hypoplasia]
Micrognathia [OMIM:Micrognathia]
Small jaw [OMIM:Small jaw]
Small mandible [OMIM:Small mandible]
Hypoplastic mandibula/partial absence of the mandibula [Orphanet:3680]
Micrognathia/retrognathia/micrognathism/retrognathism [Orphanet:3660]
Micrognathia [Orphanet:3660]
Microgenia [MedDRA:10027541]
Mandibular hypoplasia [MedDRA:10027541]
Micrognathia [MedDRA:10027543]
Maxillary hypoplasia [MedDRA:10027543]
Hypoplastic mandible (in some patients) [OMIM:Hypoplastic mandible (in some patients)]
Hypoplastic mandible (uncommon) [OMIM:Hypoplastic mandible (uncommon)]
Mandible small [OMIM:Mandible small]
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)]
Micrognathism [OMIM:Micrognathism]
Quality:
Cross references:
HPO:0000308 "Microretrognathia" [Orphanet:3680]
HPO:0000331 "Small chin" [Orphanet:3680]
Orphanet:3680 "Hypoplastic mandibula/partial absence of the mandibula" [Orphanet:3680]
Orphanet:3660 "Micrognathia/retrognathia/micrognathism/retrognathism" [Orphanet:3660]
OMIM: "Hypoplastic mandible" [OMIM:Hypoplastic mandible]
OMIM: "Hypoplastic mandible condyle" [OMIM:Hypoplastic mandible condyle]
OMIM: "Mandibular hypoplasia" [OMIM:Mandibular hypoplasia]
OMIM: "Micrognathia" [OMIM:Micrognathia]
OMIM: "Small jaw" [OMIM:Small jaw]
OMIM: "Small mandible" [OMIM:Small mandible]
OMIM: "Hypoplastic mandible (in some patients)" [OMIM:Hypoplastic mandible (in some patients)]
OMIM: "Hypoplastic mandible (uncommon)" [OMIM:Hypoplastic mandible (uncommon)]
OMIM: "Mandible small" [OMIM:Mandible small]
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)]
OMIM: "Micrognathism" [OMIM:Micrognathism]
UMLS:C0025990 "Micrognathia" [HPO:0000347]
UMLS:C0240295 "Mandibular hypoplasia" [Orphanet:3680]
UMLS:C0025990 "Micrognathism" [Orphanet:3660]
Is a (Direct Parents):
MedDRA Musculoskeletal and connective tissue disorders of face, neck and jaw congenital
Orphanet Abnormal facial shape
HPO         Aplasia/Hypoplasia of the mandible
Orphanet Retrognathia
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 mandible(HPO:0009118)
                         Micrognathia(HPO:0000347)
             Abnormal axial skeleton morphology(HPO:0009121)
                Abnormality of the skull(HPO:0000929)
                   Abnormality of facial skeleton(HPO:0011821)
                      Abnormality of the mandible(HPO:0000277)
                         Aplasia/Hypoplasia of the mandible(HPO:0009118)
                            Micrognathia(HPO:0000347)
                   Aplasia/Hypoplasia involving bones of the skull(HPO:0009116)
                      Aplasia/Hypoplasia of the mandible(HPO:0009118)
                         Micrognathia(HPO:0000347)
                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)
       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)
                      Aplasia/Hypoplasia of the mandible(HPO:0009118)
                         Micrognathia(HPO:0000347)
                Aplasia/Hypoplasia involving bones of the skull(HPO:0009116)
                   Aplasia/Hypoplasia of the mandible(HPO:0009118)
                      Micrognathia(HPO:0000347)
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)
          Micrognathia(HPO:0000347)
Database Frequency: 426 / 7739
Resource:

All diseases associated with this symptom:

14q11.2 microdeletion syndrome (Orphanet:261120)
16p11.2p12.2 microdeletion syndrome (Orphanet:261211)
17p11.2 microduplication syndrome (Orphanet:1713)
17q12 microdeletion syndrome (Orphanet:261265)
17q12 microduplication syndrome (Orphanet:261272)
19q13.11 microdeletion syndrome (Orphanet:217346)
1p36 deletion syndrome (Orphanet:1606)
22q11.2 deletion syndrome (Orphanet:567)
22q11.2 microduplication syndrome (Orphanet:1727)
2q23.1 microdeletion syndrome (Orphanet:228402)
2q32q33 microdeletion syndrome (Orphanet:251019)
3C syndrome (Orphanet:7)
46,XX disorder of sex development - skeletal anomalies (Orphanet:2975)
8q21.11 microdeletion syndrome (Orphanet:284160)
ACHARD SYNDROME (OMIM:100700)
ADAMS-OLIVER SYNDROME 2 (OMIM:614219)
ALG1-CDG (Orphanet:79327)
ARTHROGRYPOSIS, DISTAL, TYPE 2E (OMIM:121070)
ARTHROGRYPOSIS, DISTAL, WITH HYPOPITUITARISM, MENTAL RETARDATION,AND FACIAL ANOMALIES (OMIM:208080)
ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
ASYMMETRIC SHORT STATURE SYNDROME (OMIM:108450)
ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 3 (OMIM:170995)
AURICULOCONDYLAR SYNDROME 1 (OMIM:602483)
AURICULOCONDYLAR SYNDROME 2 (OMIM:614669)
AURICULOCONDYLAR SYNDROME 3 (OMIM:615706)
Acro-osteolysis-keloid-like lesions-premature aging syndrome (Orphanet:363665)
Acro-oto-ocular syndrome (Orphanet:2980)
Acro-renal-mandibular syndrome (Orphanet:958)
Acrocraniofacial dysostosis (Orphanet:949)
Acrofacial dysostosis, Rodriguez type (Orphanet:1788)
Agnathia - holoprosencephaly - situs inversus (Orphanet:990)
Amish lethal microcephaly (Orphanet:99742)
Arterial tortuosity syndrome (Orphanet:3342)
Arthrogryposis - renal dysfunction - cholestasis (Orphanet:2697)
Arthrogryposis multiplex congenita (Orphanet:1037)
Arthrogryposis with oculomotor limitation and electroretinal anomalies (Orphanet:1154)
Atelosteogenesis type I (Orphanet:1190)
Atelosteogenesis type II (Orphanet:56304)
Atelosteogenesis type III (Orphanet:56305)
Atrioventricular defect - blepharophimosis -radial defects (Orphanet:1352)
Auriculocondylar syndrome (Orphanet:137888)
Autosomal dominant Opitz G/BBB syndrome (Orphanet:306588)
Autosomal dominant Robinow syndrome (Orphanet:3107)
Autosomal dominant nonsyndromic intellectual deficit (Orphanet:178469)
Autosomal recessive Emery-Dreifuss muscular dystrophy (Orphanet:98855)
Autosomal recessive Robinow syndrome (Orphanet:1507)
Autosomal recessive multiple pterygium syndrome (Orphanet:2990)
Autosomal recessive omodysplasia (Orphanet:93329)
Autosomal recessive spastic paraplegia type 23 (Orphanet:101003)
BILIARY MALFORMATION WITH RENAL TUBULAR INSUFFICIENCY (OMIM:210550)
BOWEN SYNDROME OF MULTIPLE MALFORMATIONS (OMIM:211200)
BRACHYMESOMELIA-RENAL SYNDROME (OMIM:113470)
BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA (OMIM:609945)
Baller-Gerold syndrome (Orphanet:1225)
Bangstad syndrome (Orphanet:1227)
Barber-Say syndrome (Orphanet:1231)
Bartsocas-Papas syndrome (Orphanet:1234)
Bifunctional enzyme deficiency (Orphanet:300)
Blackfan-Diamond anemia (Orphanet:124)
Blepharophimosis-intellectual deficit syndrome due to UBE3B deficiency (Orphanet:329255)
Blepharophimosis-intellectual deficit syndrome, MKB type (Orphanet:293707)
Blepharophimosis-intellectual deficit syndrome, Ohdo type (Orphanet:2728)
Bloom syndrome (Orphanet:125)
Bohring-Opitz syndrome (Orphanet:97297)
Bowen-Conradi syndrome (Orphanet:1270)
Branchio-oculo-facial syndrome (Orphanet:1297)
C syndrome (Orphanet:1308)
CAMPOMELIC DYSPLASIA (OMIM:114290)
CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
CATEL-MANZKE SYNDROME (OMIM:616145)
CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
CEREBROOCULOFACIOSKELETAL SYNDROME 2 (OMIM:610756)
CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
CHARGE syndrome (Orphanet:138)
CHILD syndrome (Orphanet:139)
CHROMOSOME 16q22 DELETION SYNDROME (OMIM:614541)
CHROMOSOME 5q12 DELETION SYNDROME (OMIM:615668)
CK syndrome (Orphanet:251383)
CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
COFS syndrome (Orphanet:1466)
COLD-INDUCED SWEATING SYNDROME 1 (OMIM:272430)
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTALDELAY (OMIM:616266)
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy (OMIM:300934)
CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
CORNELIA DE LANGE SYNDROME 5 (OMIM:300882)
COWDEN SYNDROME 5 (OMIM:615108)
COWDEN SYNDROME 6 (OMIM:615109)
CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG (OMIM:218649)
CREE MENTAL RETARDATION SYNDROME (OMIM:606851)
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Campomelic dysplasia (Orphanet:140)
Camptodactyly syndrome, Guadalajara type 2 (Orphanet:1326)
Cardiocranial syndrome, Pfeiffer type (Orphanet:2872)
Cardiodysrhythmic potassium-sensitive periodic paralysis (Orphanet:37553)
Cardiofaciocutaneous syndrome (Orphanet:1340)
Carey-Fineman-Ziter syndrome (Orphanet:1358)
Carpenter syndrome (Orphanet:65759)
Carpenter-Waziri syndrome (Orphanet:93973)
Cat-eye syndrome (Orphanet:195)
Cataract - intellectual deficit - hypogonadism (Orphanet:1387)
Cataract-congenital heart disease-neural tube defect syndrome (Orphanet:314993)
Catel-Manzke syndrome (Orphanet:1388)
Cenani-Lenz syndrome (Orphanet:3258)
Cerebro-costo-mandibular syndrome (Orphanet:1393)
Cerebro-facio-articular syndrome (Orphanet:314679)
Cerebro-facio-thoracic dysplasia (Orphanet:1394)
Choanal atresia - deafness - cardiac defects - dysmorphism (Orphanet:1200)
Chondrodysplasia with joint dislocations, gPAPP type (Orphanet:280586)
Chondrodysplasia, Blomstrand type (Orphanet:50945)
Chudley-Lowry-Hoar syndrome (Orphanet:93971)
Cleft palate (Orphanet:2014)
Cleft palate - large ears - small head (Orphanet:2013)
Cleidocranial dysplasia (Orphanet:1452)
Cohen syndrome (Orphanet:193)
Cold-induced sweating syndrome (Orphanet:157820)
Cole-Carpenter syndrome (Orphanet:2050)
Congenital contractural arachnodactyly (Orphanet:115)
Congenital muscular dystrophy with intellectual disability and severe epilepsy (Orphanet:329178)
Cornelia de Lange syndrome (Orphanet:199)
Costello syndrome (Orphanet:3071)
Cowden syndrome (Orphanet:201)
Coxo-podo-patellar syndrome (Orphanet:1509)
Cranioectodermal dysplasia 3 (OMIM:614099)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (Orphanet:221145)
Cystic fibrosis - gastritis - megaloblastic anemia (Orphanet:2575)
D-2-@HYDROXYGLUTARIC ACIDURIA 1 (OMIM:600721)
D-2-hydroxyglutaric aciduria (Orphanet:79315)
DEXTROCARDIA WITH UNUSUAL FACIES AND MICROPHTHALMIA (OMIM:221950)
DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
DIAMOND-BLACKFAN ANEMIA 10 (OMIM:613309)
DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS (OMIM:300946)
DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS (OMIM:606164)
DIAMOND-BLACKFAN ANEMIA 6 (OMIM:612561)
DIGEORGE SYNDROME (OMIM:188400)
DPAGT1-CDG (Orphanet:86309)
DPM1-CDG (Orphanet:79322)
Deafness - intellectual deficit, Martin-Probst type (Orphanet:85321)
Deafness with labyrinthine aplasia, microtia, and microdontia (Orphanet:90024)
Desmosterolosis (Orphanet:35107)
Diaphanospondylodysostosis (Orphanet:66637)
Distal arthrogryposis type 5D (Orphanet:329457)
Distal limb deficiencies - micrognathia syndrome (Orphanet:1307)
Distal monosomy 10q (Orphanet:96148)
Distal monosomy 15q (Orphanet:1596)
Distal monosomy 1q (Orphanet:36367)
Distal monosomy 3p (Orphanet:1620)
Dubowitz syndrome (Orphanet:235)
Dysosteosclerosis (Orphanet:1782)
Dyssegmental dysplasia, Rolland-Desbuquois type (Orphanet:156731)
Dyssegmental dysplasia, Silverman-Handmaker type (Orphanet:1865)
ECTODERMAL DYSPLASIA SYNDROME WITH DISTINCTIVE FACIAL APPEARANCE ANDPREAXIAL POLYDACTYLY OF FEET (OMIM:129540)
ECTODERMAL DYSPLASIA, SENSORINEURAL HEARING LOSS, AND DISTINCTIVEFACIAL FEATURES (OMIM:609944)
ECTRODACTYLY OF LOWER LIMBS, CONGENITAL HEART DEFECT, AND MICROGNATHIA (OMIM:601348)
EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT, TYPE UNSPECIFIED (OMIM:130090)
Ear-patella-short stature syndrome (Orphanet:2554)
Ehlers-Danlos syndrome, dermatosparaxis type (Orphanet:1901)
Emanuel syndrome (Orphanet:96170)
Endocrine-cerebro-osteodysplasia syndrome (Orphanet:199332)
FACIAL PARESIS, HEREDITARY CONGENITAL, 3 (OMIM:614744)
FACIOCARDIOMELIC SYNDROME (OMIM:612731)
FACIOTHORACOGENITAL SYNDROME (OMIM:227320)
FANCONI ANEMIA, COMPLEMENTATION GROUP P (OMIM:613951)
FEINGOLD SYNDROME 1 (OMIM:164280)
FETAL AKINESIA DEFORMATION SEQUENCE (OMIM:208150)
FGFR2-related bent bone dysplasia (Orphanet:313855)
FIBROCHONDROGENESIS 2 (OMIM:614524)
FRONTOOCULAR SYNDROME (OMIM:605321)
Faciocardiorenal syndrome (Orphanet:1973)
Feingold syndrome (Orphanet:1305)
Femoral-facial syndrome (Orphanet:1988)
Fetal Gaucher disease (Orphanet:85212)
Fetal akinesia deformation sequence (Orphanet:994)
Fibulo-ulnar hypoplasia - renal anomalies (Orphanet:2256)
Fowler syndrome (Orphanet:221126)
Frank-Ter Haar syndrome (Orphanet:137834)
GAPO syndrome (Orphanet:2067)
Galloway-Mowat syndrome (Orphanet:2065)
Genito-palato-cardiac syndrome (Orphanet:2075)
Genitopatellar syndrome (Orphanet:85201)
Goldenhar syndrome (Orphanet:374)
Gordon syndrome (Orphanet:376)
Grant syndrome (Orphanet:2097)
Greenberg dysplasia (Orphanet:1426)
Growth deficiency - brachydactyly - dysmorphism (Orphanet:2055)
Growth delay - hydrocephaly - lung hypoplasia (Orphanet:3035)
Growth delay due to insulin-like growth factor type 1 deficiency (Orphanet:73272)
HAJDU-CHENEY SYNDROME (OMIM:102500)
HYDROLETHALUS SYNDROME 1 (OMIM:236680)
HYDROLETHALUS SYNDROME 2 (OMIM:614120)
HYPOTHALAMIC HAMARTOMASCONGENITAL HYPOTHALAMIC HAMARTOMA SYNDROME, INCLUDED (OMIM:241800)
Hallermann-Streiff syndrome (Orphanet:2108)
Hennekam-Beemer syndrome (Orphanet:2135)
Holmes-Gang syndrome (Orphanet:93970)
Hurler syndrome (Orphanet:93473)
Hurler-Scheie syndrome (Orphanet:93476)
Hutchinson-Gilford progeria syndrome (Orphanet:740)
Hydrolethalus (Orphanet:2189)
Hypertelorism-microtia-facial clefting syndrome (Orphanet:2213)
Hypoglossia - hypodactyly (Orphanet:989)
Hypomandibular faciocranial dysostosis (Orphanet:1790)
Hypotonia-speech impairment-severe cognitive delay syndrome (Orphanet:371364)
ICF syndrome (Orphanet:2268)
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME1 (OMIM:242860)
Infantile neuroaxonal dystrophy (Orphanet:35069)
Intellectual deficit, X-linked - craniofacioskeletal syndrome (Orphanet:163979)
Intellectual deficit, X-linked - psychosis - macroorchidism (Orphanet:3077)
Intellectual disability-developmental delay-contractures syndrome (Orphanet:3454)
Isolated Pierre Robin syndrome (Orphanet:718)
Isolated congenital hypoglossia/aglossia (Orphanet:141152)
Isotretinoin-like syndrome (Orphanet:2306)
Jacobsen syndrome (Orphanet:2308)
Joubert syndrome 18 (OMIM:614815)
Joubert syndrome with orofaciodigital defect (Orphanet:2754)
Juberg-Marsidi syndrome (Orphanet:93972)
KAGAMI-OGATA SYNDROME (OMIM:608149)
KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
Kyphomelic dysplasia (Orphanet:1801)
LETHAL CONGENITAL CONTRACTURE SYNDROME 7 (OMIM:616286)
LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA (OMIM:616342)
LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
LUJAN-FRYNS SYNDROME (OMIM:309520)
Langer mesomelic dysplasia (Orphanet:2632)
Larsen-like syndrome, B3GAT3 type (Orphanet:284139)
Lateral meningocele syndrome (Orphanet:2789)
Lathosterolosis (Orphanet:46059)
Legius syndrome (Orphanet:137605)
Lenz-Majewski hyperostotic dwarfism (Orphanet:2658)
Lethal congenital contracture syndrome type 1 (Orphanet:1486)
Lethal congenital contracture syndrome type 2 (Orphanet:137776)
Lethal faciocardiomelic dysplasia (Orphanet:1972)
Lethal multiple pterygium syndrome (Orphanet:33108)
Lethal osteosclerotic bone dysplasia (Orphanet:1832)
Lethal restrictive dermopathy (Orphanet:1662)
Lhermitte-Duclos disease (Orphanet:65285)
Lipodystrophy due to peptidic growth factors deficiency (Orphanet:1979)
Loeys-Dietz syndrome type 1 (Orphanet:60030)
MANDIBULOFACIAL DYSOSTOSIS WITH PTOSIS, AUTOSOMAL DOMINANT (OMIM:608257)
MEIER-GORLIN SYNDROME 1 (OMIM:224690)
MEIER-GORLIN SYNDROME 2 (OMIM:613800)
MEIER-GORLIN SYNDROME 3 (OMIM:613803)
MEIER-GORLIN SYNDROME 4 (OMIM:613804)
MEIER-GORLIN SYNDROME 5 (OMIM:613805)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 (OMIM:615761)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 35 (OMIM:615162)
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III (OMIM:210730)
MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616051)
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 (OMIM:616171)
MICROPHTHALMIA, SYNDROMIC 12 (OMIM:615524)
MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
MURCS association (Orphanet:2578)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 3 (OMIM:253280)
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL (OMIM:608930)
MYOPATHY, CENTRONUCLEAR, 5 (OMIM:615959)
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION, X-LINKED (OMIM:300580)
Mandibular hypoplasia-deafness-progeroid syndrome (Orphanet:363649)
Mandibuloacral dysplasia (Orphanet:2457)
Mandibuloacral dysplasia with type A lipodystrophy (Orphanet:90153)
Mandibuloacral dysplasia with type B lipodystrophy (Orphanet:90154)
Mandibulofacial dysostosis - macroblepharon - macrostomia (Orphanet:357158)
Mandibulofacial dysostosis-microcephaly syndrome (Orphanet:79113)
Marden-Walker syndrome (Orphanet:2461)
Marfan syndrome type 1 (Orphanet:284963)
Marshall syndrome (Orphanet:560)
Marshall-Smith syndrome (Orphanet:561)
Matthew-Wood syndrome (Orphanet:2470)
McDonough syndrome (Orphanet:2471)
Meckel syndrome (Orphanet:564)
Meckel syndrome, type 1 (OMIM:249000)
Meckel syndrome, type 12 (OMIM:616258)
Megalocornea-intellectual deficit syndrome (Orphanet:2479)
Menkes disease (Orphanet:565)
Mesomelic dwarfism - cleft palate - camptodactyly (Orphanet:2631)
Metaphyseal chondrodysplasia, Jansen type (Orphanet:33067)
Methylmalonic acidemia with homocystinuria, type cblJ (Orphanet:369955)
Micro syndrome (Orphanet:2510)
Microcephalic osteodysplastic primordial dwarfism types 1 and 3 (Orphanet:2636)
Microcephalic primordial dwarfism due to ZNF335 deficiency (Orphanet:329228)
Microcephalic primordial dwarfism, Toriello type (Orphanet:2643)
Microcephaly - deafness - intellectual deficit (Orphanet:2533)
Microphthalmia with brain and digit anomalies (Orphanet:139471)
Miller-Dieker syndrome (Orphanet:531)
Mitochondrial myopathy and sideroblastic anemia (Orphanet:2598)
Moebius syndrome (Orphanet:570)
Monosomy 18p (Orphanet:1598)
Monosomy 9p (Orphanet:261112)
Mosaic variegated aneuploidy syndrome (Orphanet:1052)
Mulibrey nanism (Orphanet:2576)
Mullerian derivatives - lymphangiectasia - polydactyly (Orphanet:1655)
Multicentric carpo-tarsal osteolysis with or without nephropathy (Orphanet:2774)
Multiple congenital anomalies - hypotonia - seizures syndrome (Orphanet:280633)
Multiple congenital anomalies-hypotonia-seizures syndrome type 2 (Orphanet:300496)
Multiple epiphyseal dysplasia, Lowry type (Orphanet:166016)
Myopathy, lactic acidosis, and sideroblastic anemia 1; MLASA1 (OMIM:600462)
NEMALINE MYOPATHY 9 (OMIM:615731)
NEU-LAXOVA SYNDROME 2 (OMIM:616038)
NOONAN SYNDROME 1 (OMIM:163950)
Nager syndrome (Orphanet:245)
Native American myopathy (Orphanet:168572)
Neonatal hemochromatosis (Orphanet:446)
Nestor-Guillermo progeria syndrome (Orphanet:280576)
Neu-Laxova syndrome (Orphanet:2671)
Nijmegen breakage syndrome (Orphanet:647)
Noonan syndrome (Orphanet:648)
Noonan syndrome-like disorder with loose anagen hair (Orphanet:2701)
OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
OROFACIODIGITAL SYNDROME VI (OMIM:277170)
OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
OSTEOGENESIS IMPERFECTA, TYPE XII (OMIM:613849)
Oculocerebrofacial syndrome, Kaufman type (Orphanet:2707)
Opitz G/BBB syndrome (Orphanet:2745)
Orofaciodigital syndrome type 2 (Orphanet:2751)
Orofaciodigital syndrome type 4 (Orphanet:2753)
Osteodysplasty, Melnick-Needles type (Orphanet:2484)
Osteogenesis imperfecta type 3 (Orphanet:216812)
Osteopathia striata - cranial sclerosis (Orphanet:2780)
Otopalatodigital syndrome (Orphanet:669)
Otopalatodigital syndrome type 2 (Orphanet:90652)
Otospondylomegaepiphyseal dysplasia (Orphanet:1427)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
PGM1-CDG (Orphanet:319646)
PIERRE ROBIN SEQUENCE WITH PECTUS EXCAVATUM AND RIB AND SCAPULAR ANOMALIES (OMIM:602196)
Paris-Trousseau thrombocytopenia (Orphanet:851)
Patterson-Stevenson-Fontaine syndrome (Orphanet:2439)
Pelviscapular dysplasia (Orphanet:93333)
Perlman syndrome (Orphanet:2849)
Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis (Orphanet:65288)
Peters-plus syndrome (Orphanet:709)
Pierre Robin syndrome - faciodigital anomaly (Orphanet:2888)
Pontocerebellar hypoplasia, type 9 (OMIM:615809)
Postaxial acrofacial dysostosis (Orphanet:246)
Proteus-like syndrome (Orphanet:2969)
Pseudoaminopterin syndrome (Orphanet:221120)
Pycnodysostosis (Orphanet:763)
RENAL AND MULLERIAN DUCT HYPOPLASIA (OMIM:266810)
RFT1-CDG (Orphanet:244310)
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL (OMIM:614498)
ROBERTS SYNDROME (OMIM:268300)
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
RUIJS-AALFS SYNDROME (OMIM:616200)
Recombinant 8 syndrome (Orphanet:96167)
Renier-Gabreels-Jasper syndrome (Orphanet:93975)
Renpenning syndrome (Orphanet:3242)
Rhizomelic chondrodysplasia punctata (Orphanet:177)
Rhizomelic chondrodysplasia punctata type 1 (Orphanet:309789)
Rhizomelic chondrodysplasia punctata type 2 (Orphanet:309796)
Rhizomelic syndrome, Urbach type (Orphanet:3098)
Richieri Costa-Pereira syndrome (Orphanet:3102)
Roberts syndrome (Orphanet:3103)
Robin sequence - oligodactyly (Orphanet:3104)
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (Orphanet:353281)
Rubinstein-Taybi syndrome due to CREBBP mutations (Orphanet:353277)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (Orphanet:353284)
SC PHOCOMELIA SYNDROME (OMIM:269000)
SECKEL SYNDROME 1 (OMIM:210600)
SECKEL SYNDROME 2 (OMIM:606744)
SECKEL SYNDROME 8 (OMIM:615807)
SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, ANDSKELETAL ABNORMALITIES (OMIM:602471)
SHORT STATURE-OBESITY SYNDROME (OMIM:269870)
SHORT syndrome (Orphanet:3163)
SILVER-RUSSELL SYNDROME (OMIM:180860)
SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL NERVOUS SYSTEM DEGENERATION,LETHAL (OMIM:602613)
SPONDYLOSPINAL THORACIC DYSOSTOSIS (OMIM:601809)
STERNUM, PREMATURE OBLITERATION OF SUTURES OF (OMIM:184800)
Sanjad-Sakati syndrome (Orphanet:2323)
Say-Barber-Miller syndrome (Orphanet:3132)
Schilbach-Rott syndrome (Orphanet:2353)
Schwartz-Jampel syndrome (Orphanet:800)
Seckel syndrome (Orphanet:808)
Sheldon-Hall syndrome (Orphanet:1147)
Shprintzen-Goldberg syndrome (Orphanet:2462)
Silver-Russell syndrome (Orphanet:813)
Smith-Fineman-Myers syndrome (Orphanet:93974)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Splenogonadal fusion - limb defects - micrognathia (Orphanet:2063)
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification (Orphanet:93358)
Spondyloepimetaphyseal dysplasia with joint laxity (Orphanet:93359)
Stickler syndrome type 2 (Orphanet:90654)
Stüve-Wiedemann syndrome (Orphanet:3206)
Syndromic X-linked intellectual deficit due to JARID1C mutation (Orphanet:85279)
TARP syndrome (Orphanet:2886)
TEMPLE SYNDROME (OMIM:616222)
TREACHER COLLINS SYNDROME 1 (OMIM:154500)
TREACHER COLLINS SYNDROME 2 (OMIM:613717)
TREACHER COLLINS SYNDROME 3 (OMIM:248390)
TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
TRISOMY 18-LIKE SYNDROME (OMIM:601161)
Temtamy syndrome (Orphanet:1777)
Tetraamelia - multiple malformations (Orphanet:3301)
Tetrasomy 12p (Orphanet:884)
Thrombocytopenia - absent radius (Orphanet:3320)
Torg-Winchester syndrome (Orphanet:3460)
Treacher-Collins syndrome (Orphanet:861)
Trichorhinophalangeal syndrome type 1 and 3 (Orphanet:77258)
Trigonocephaly - bifid nose - acral anomalies (Orphanet:3368)
Trismus - pseudocamptodactyly (Orphanet:3377)
Ulbright-Hodes syndrome (Orphanet:3404)
VAN BOGAERT-HOZAY SYNDROME (OMIM:277150)
VAN MALDERGEM SYNDROME 1 (OMIM:601390)
VAN MALDERGEM SYNDROME 2 (OMIM:615546)
Vici syndrome (Orphanet:1493)
WARBURG MICRO SYNDROME 1 (OMIM:600118)
WARBURG MICRO SYNDROME 3 (OMIM:614222)
WEYERS ULNAR RAY/OLIGODACTYLY SYNDROME (OMIM:602418)
WHISTLING FACE SYNDROME, RECESSIVE FORM (OMIM:277720)
WT limb-blood syndrome (Orphanet:3466)
Weissenbacher- Zweymuller syndrome (Orphanet:3450)
Wiedemann-Rautenstrauch syndrome (Orphanet:3455)
Wolf-Hirschhorn syndrome (Orphanet:280)
X-linked distal arthrogryposis multiplex congenita (Orphanet:1145)
X-linked intellectual deficit - hypotonic face (Orphanet:73220)
X-linked intellectual deficit, Najm type (Orphanet:163937)
X-linked lethal multiple pterygium syndrome (Orphanet:79447)
X-linked lissencephaly with abnormal genitalia (Orphanet:452)
XIA-GIBBS SYNDROME (OMIM:615829)
Yunis-Varon syndrome (Orphanet:3472)
Zellweger syndrome (Orphanet:912)
Zellweger-like syndrome without peroxisomal anomalies (Orphanet:50812)
[DEL] ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)