Metatropic dysplasia11719Metatropic dysplasia

Abrozzo Erickson syndrome

Acro renal mandibular syndrome

Aglossia adactyly syndrome

Anemia (Fanconi s anemia)

Apert syndrome

Baber s syndrome

Biemond s syndome II

Bowen Conradi syndrome


Braun Berger syndrome


Carpenter s syndrome

Cayler s syndrome

Cerebro costo mandibular syndrome

Crome s syndrome

Daentl s syndrome

Denys oculo cerebro renal syndrome

Dieker Opitz acro renal syndrome


Eastman Bixler syndrome

Elejalde s syndrome acrocephalopolydactylous dyplasia

Elsahy Waters syndrome

Epidermal nevus syndrome

Erythrocyte (Spherocytosis)

Facio oculo acoustico renal syndrome

FG syndrome

Freeman Sheldon syndrome cranio carpo tarsal dysplasia

Fronto nasal dysplasia

Frontometaphyseal dysplasia

Fryns syndrome

Giedion Langer Syndrome

Gil Gibenar syndrome

Goeminne s syndrome

Goldston s syndrome

Hajdu Cheney syndrome

Hepatic steatosis familial

HMC syndrome

Huber s syndrome

Hunter Jurenka syndrome

Intestinal lymphangiectasia

Intestinal pseudoobstruction familial

IVIC syndrome

Kaufman McKusick syndrome

Kaufmann s syndrome

Lacrimo auriculo dento digital syndrome

Langer s Brachymesomelia renal syndrome

Larsen s syndrome

Lecelerc s syndrome

Lundin Olow familial renal dysplasia

Lutz Richner syndrome

Mainzer Saladino syndrome

Majewski s syndrome short rib polydactyly II

Mammo renal syndrome

Marble brain disease

McCance syndrome

Meckel Gruber syndrome dysencephalia splanchnocystica

Melnick Needles syndrome

Meltzer s syndrome

Metatropic dysplasia

Miranda s syndrome

MMIH syndrome



Musculoskeletal system (Genetic diseases)

Myotonic dystrophy with polycystic kidney

Netherton s syndrome

Ochoa s syndrome

Oculo renal cerebellar syndrome

Oro facio digital dysplasia OFD1

Osteolysis with nephropathy

Oto palato digital syndrome

Ozer s syndrome

Pallsiter s syndrome

Passarge s syndrome

Passwell s syndrome

Platelets (Thrombocytopenia familial)

Pseudoxanthoma elasticum

Roberts SC phocomelia

Rudiger syndrome

Saladino Noonan syndrome short rib polydactyly

Shwachman s syndrome

Simopoulos syndrome

Sinclair Smith syndrome

Spondylo costal dysostosis

Spondylometaphyseal dysplasia Kozlowski type

Swyer s syndrome

Syndactyly V

Thrombocytopenia with absent radii

Townes Kuvnit syndrome REAR syndrome



Ulbright s syndrome

Weyer s syndrome

Weyers Thier syndrome

Winter s syndrome

Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.
[19232556] Am J Hum Genet 84(3): 307-15 (2009)
Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia.
[20425821] Am J Med Genet A 152A(5): 1169-77 (2010)
TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families.
[21658220] Orphanet J Rare Dis 6(): 37 (2011)

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  • Metatropic dysplasia

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