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Thanatophoric dysplasia type 1

Synonyms
LETHAL SHORT-LIMBED PLATYSPONDYLIC DWARFISM, SAN DIEGO TYPE; PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, SAN DIEGO TYPE; Thanatophoric Dysplasia Type I
Modes of inheritance
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)

Summary

Excerpted from the GeneReview: Thanatophoric Dysplasia
Thanatophoric dysplasia (TD) is a short-limb skeletal dysplasia that is usually lethal in the perinatal period. TD is divided into subtypes: TD type 1 is characterized by micromelia with bowed femurs and, uncommonly, the presence of craniosynostosis of varying severity. TD type 2 is characterized by micromelia with straight femurs and uniform presence of moderate-to-severe craniosynostosis with cloverleaf skull deformity. Other features common to type 1 and type 2 include: short ribs, narrow thorax, relative macrocephaly, distinctive facial features, brachydactyly, hypotonia, and redundant skin folds along the limbs. Most affected infants die of respiratory insufficiency shortly after birth. Rare long-term survivors have been reported.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Tegan French
Ravi Savarirayan
view full author information

Available tests

89 tests are in the database for this condition.

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Clinical tests (89 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ACH, CD333, CEK2, HSFGFR3EX, JTK4, FGFR3
    Summary: fibroblast growth factor receptor 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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