Thanatophoric Dysplasia, Type I (TD1)

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Disease Ontology 12 DOID:13481 OMIM 57 187600 KEGG 37 H01750 MeSH 44 D013796 NCIt 50 C85187 SNOMED-CT 68 29352008

ICD10 33 Q77.1 ICD10 via Orphanet 34 Q77.1 UMLS via Orphanet 73 C0039743 C1868678 C2931282 Orphanet 59 ORPHA1860 ORPHA2655 MedGen 42 C1868678 C2674173 UMLS 72 C0039743 C1868678

NIH Rare Diseases : ⁵³ Thanatophoric dysplasia is a severe skeletal disorder characterized by extremely short limbs and folds of extra skin on the arms and legs. Other features of this condition include a narrow chest, short ribs, underdeveloped lungs, and an enlarged head with a large forehead and prominent, wide-spaced eyes. Most infants with thanatophoric dysplasia are stillborn or die shortly after birth from respiratory failure. A few affected individuals have survived into childhood with extensive medical help. Thanatophoric dysplasia is caused by mutations in the FGFR3 gene. While this condition is considered to be autosomal dominant, virtually all cases have occurred in people with no history of the disorder in their family. Two major forms of thanatophoric dysplasia have been described, type I and type II. Type I thanatophoric dysplasia is distinguished by the presence of curved thigh bones and flattened bones of the spine (platyspondyly). Type II thanatophoric dysplasia is characterized by straight thigh bones and a moderate to severe skull abnormality called a cloverleaf skull.

MalaCards based summary : Thanatophoric Dysplasia, Type I, also known as thanatophoric dysplasia, is related to acanthosis nigricans and achondroplasia, severe, with developmental delay and acanthosis nigricans. An important gene associated with Thanatophoric Dysplasia, Type I is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are TGF-Beta Pathway and Cytokine Signaling in Immune system. Affiliated tissues include bone, skin and lung, and related phenotypes are macrocephaly and muscular hypotonia

Disease Ontology : ¹² An osteochondrodysplasia that results in short arms and legs with excess folds of skin.

Genetics Home Reference : ²⁵ Thanatophoric dysplasia is a severe skeletal disorder characterized by extremely short limbs and folds of extra (redundant) skin on the arms and legs. Other features of this condition include a narrow chest, short ribs, underdeveloped lungs, and an enlarged head with a large forehead and prominent, wide-spaced eyes. Researchers have described two major forms of thanatophoric dysplasia, type I and type II. Type I thanatophoric dysplasia is distinguished by the presence of curved thigh bones and flattened bones of the spine (platyspondyly). Type II thanatophoric dysplasia is characterized by straight thigh bones and a moderate to severe skull abnormality called a cloverleaf skull. The term thanatophoric is Greek for "death bearing." Infants with thanatophoric dysplasia are usually stillborn or die shortly after birth from respiratory failure; however, a few affected individuals have survived into childhood with extensive medical help.

OMIM : ⁵⁷ Thanatophoric dysplasia is a severe short-limb dwarfism syndrome that is usually lethal in the perinatal period. Norman et al. (1992) classified cases of TD into subtypes based on the presence of curved as opposed to straight femurs; patients with straight, relatively long femurs always had associated severe cloverleaf skull and were designated TD type II (TD2), while TD cases with curved, short femurs with or without cloverleaf skull were designated TD type I (TD1) (Langer et al., 1987). (187600)

KEGG : ³⁷ Thanatophoric dysplasia (TD) is a congenital skeletal dysplasia characterized by marked underdevelopment of the skeletal system and short-limb dwarfism. It is the most common form of lethal skeletal dysplasia syndromes. Two types of TD have been described. Type I TD (TDI) is associated with curved and short femurs. The shortness of the bones in type II TD (TDII) is not as significant as in TDI. TDII is characterized by straight femurs and cloverleaf skull deformity. Other features common to type I and type II include short ribs, narrow thorax, macrocephaly, distinctive facial features, brachydactyly, hypotonia, and redundant skin folds along the limbs. Most affected infants die of respiratory insufficiency shortly after birth. Both TDI and TDII are caused by heterozygous fibroblast growth factor receptor 3 (FGFR3) missense mutations. Its incidence is 1 in 20 000 to 50 000 births and it is an autosomal dominant condition. The mutation in most TD cases is de novo.

UniProtKB/Swiss-Prot : ⁷⁴ Thanatophoric dysplasia 1: A neonatal lethal skeletal dysplasia. Affected individuals manifest severe shortening of the limbs with macrocephaly, narrow thorax, short ribs, and curved femurs.

Wikipedia : ⁷⁵ Thanatophoric dysplasia (thanatophoric dwarfism) is a severe skeletal disorder characterized by a... more...

GeneReviews: NBK1366

Clinical features from OMIM:

187600

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased substrate adherent cell growth	GR00193-A-2	8.92	FGFR2
2	Decreased substrate adherent cell growth	GR00193-A-3	8.92	FGFR2 FGFR3 NPR2

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