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Disease Browser
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Craniofacial Abnormalities (D019465)
Parent Node:
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Dwarfism (D004392)
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Short Stature And Facioauriculothoracic Malformations (C566457)

       Child Nodes:



 Sister Nodes: 
..expandAarskog Syndrome (C535331) Child1
..expandAbuse dwarfism syndrome (C535569)
..expandAchondroplasia (D000130) Child21
..expandAcromesomelic dysplasia (C535658) Child1
..expandAcromesomelic dysplasia Campailla-Martinelli type (C535659)
..expandAlaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus (C565968)
..expandAlopecia contractures dwarfism mental retardation (C537051)
..expandAmino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis (C565960)
..expandAnauxetic dysplasia (C538256)
..expandAstley-Kendall syndrome (C535392)
..expandAsymmetric Short Stature Syndrome (C566248)
..expandATELOSTEOGENESIS, TYPE III (OMIM:108721)
..expandBangstad syndrome (C537902)
..expandBird headed dwarfism Montreal type (C535448)
..expandBoomerang dysplasia (C536573)
..expandBrachydactylous dwarfism Mseleni type (C537086)
..expandBrachymetapody-Anodontia-Hypotrichosis-Albinoidism (C565893)
..expandBrunoni syndrome (C537408)
..expandBullous Dystrophy, Hereditary Macular Type (C563065)
..expandCantu Sanchez-Corona Fragoso syndrome (C535571)
..expandChondrodysplasia Calcificans Metaphysealis (C565855)
..expandChondrodysplasia, Megarbane-Dagher-Melki Type (C567644)
..expandCockayne Syndrome (D003057) Child6
..expandCongenital Hypothyroidism (D003409) Child17
..expandDe Sanctis-Cacchione syndrome (C535992)
..expandDesbuquois syndrome (C535943)
..expandDiastrophic dysplasia (C536170)
..expandDiastrophic Dysplasia, Broad Bone-Platyspondylic Variant (C565626)
..expandDisproportionate Short Stature with Ptosis and Valvular Heart Lesions (C565094)
..expandDwarfism stiff joint ocular abnormalities (C535724)
..expandDwarfism tall vertebrae (C535725)
..expandDwarfism, Familial, With Muscle Spasms (C563447)
..expandDwarfism, Levi Type (C565081)
..expandDwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone (C565615)
..expandDwarfism, Pituitary (D004393) Child11
..expandDwarfism, Proportionate, with Hip Dislocation (C565614)
..expandDyggve-Melchior-Clausen syndrome (C535726)
..expandDyssegmental dysplasia (C537998)
..expandDyssegmental Dysplasia with Glaucoma (C563290)
..expandFibrochondrogenesis (C562524)
..expandGerodermia osteodysplastica (C537799)
..expandGrowth Retardation, Developmental Delay, Coarse Facies, And Early Death (C567856)
..expandHadziselimovic Syndrome (C567850)
..expandHypochondroplasia (C562937)
..expandIchthyosis, mental retardation, dwarfism, and renal impairment (C536274)
..expandIsolated Growth Hormone Deficiency, Type IB (C567564)
..expandKenny Caffey syndrome (C537020)
..expandKeratosis follicularis dwarfism cerebral atrophy (C536158)
..expandKniest dysplasia (C537207)
..expandLaplane Fontaine Lagardere syndrome (C537869)
..expandLaron Syndrome (D046150) Child1
..expandMegaepiphyseal dwarfism (C536140) Child1
..expandMental retardation, macrocephaly, short stature and craniofacial dysmorphism (C537453)
..expandMental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations (C565248)
..expandMesomelic Dwarfism of Hypoplastic Tibia and Radius Type (C563589)
..expandMesomelic dwarfism Reinhardt Pfeiffer type (C537349)
..expandMetatropic dwarfism (C537356)
..expandMetatropic Dwarfism, Type II (C581628)
..expandMicrocephalic osteodysplastic primordial dwarfism, type 1 (C537577)
..expandMicrocephalic osteodysplastic primordial dwarfism, type 3 (C537320)
..expandMicrocephalic Osteodysplastic Primordial Dwarfism, Type II (C565898)
..expandMicrocephalic primordial dwarfism Toriello type (C537321)
..expandMiller-McKusick-Malvaux-Syndrome (3M Syndrome) (C535314)
..expandMollica Pavone Antener syndrome (C535809)
..expandMulibrey Nanism (D050336) Child1
..expandNievergelt syndrome (C536120)
..expandOculopalatocerebral Syndrome (C564935)
..expandOliver-McFarlane syndrome (C536554)
..expandParastremmatic dwarfism (C537172)
..expandPseudodiastrophic dysplasia (C535826)
..expandRapadilino syndrome (C535288)
..expandRobinow Syndrome, Autosomal Dominant (C562492)
..expandRommen Mueller Sybert syndrome (C535871)
..expandRuvalcaba Syndrome (C579395)
..expandSeckel like syndrome type Buebel (C537532)
..expandSeckel syndrome 1 (C537533)
..expandSeckel syndrome 2 (C537534)
..expandSeckel Syndrome 3 (C563881)
..expandSECKEL SYNDROME 4 (OMIM:613676)
..expandShort limb dwarfism Al Gazali type (C537598)
..expandShort Stature And Facioauriculothoracic Malformations (C566457)
..expandShort Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, And Atypical Clefting (C566989)
..expandShort Stature-Obesity Syndrome (C564821)
..expandSilver-Russell Syndrome (D056730) Child1
..expandSingh Chhaparwal Dhanda syndrome (C537341)
..expandSpondyloepiphyseal dysplasia tarda, Toledo type (C535787)
..expandSpondylometaepiphyseal Dysplasia, Short Limb-Hand Type (C564794)
..expandSynovial Chondromatosis, Familial, with Dwarfism (C566087)
..expandThoraco limb dysplasia Rivera type (C536516)
..expandThoracomelic Dysplasia (C564773)
..expandThree M Syndrome 2 (C567862)
..expandTryptophanuria With Dwarfism (C562658)
..expandWeill-Marchesani Syndrome (D056846)
..expandWeill-Marchesani-Like Syndrome (C567710)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:10198
Name:Short Stature And Facioauriculothoracic Malformations
Definition:
Alternative IDs:
ParentIDs:MESH:D004392|MESH:D019465
TreeNumbers:C05.116.099.343/C566457 |C05.660.207/C566457 |C16.131.621.207/C566457 |C16.320.240/C566457 |C19.297/C566457
Synonyms:
Slim Mappings:Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease
Reference: MedGen: C566457
MeSH: C566457
OMIM: 609654;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003310Abnormality of the odontoid process
3 HP:0000891Cervical ribs
4 HP:0000175Cleft palate
5 HP:0000204Cleft upper lip
6 HP:0000378Cupped ear
7 HP:0000218High palate
8 HP:0000369Low-set ears
9 HP:0000252Microcephaly
10 HP:0008551Microtia
11 HP:0000396Overfolded helix
12 HP:0000768Pectus carinatum
13 HP:0000767Pectus excavatum
14 HP:0003508Proportionate short stature
15 HP:0000508Ptosis
16 HP:0000470Short neck
17 HP:0001629Ventricular septal defect
Disease Causing ClinVar Variants