| umls-concept:C0039743 | skos:definition | MSH: A severe form of neonatal dwarfism with very short limbs. All cases have died at birth or later in the neonatal period.,JABL: A severe skeletal dysplasia characterized chiefly by rhizomelic shortness of the limbs with skin redundancy, narrow chest with flattened vertebral bodies, a short pelvis, and disproportionately large head with frontal bossing and cloverleaf skull, prominent eyes, hypertelorism, and depressed nasal bridge. The condition is usually lethal at birth (hence the term thanatophoric meaning "death bearing," in Greek) but some patients may survive into the childhood. Those who survive are severely retarded and suffer from respiratory insufficiency due to reduced chest circumference and/or lower brain stem compression caused by a small foramen magnum and a variety of central nervous system and other abnormalities. Two basic types are recognized: Type I (TD1) with curved femora and flat vertebral bodies. Type II (TD2) with straight femora, taller vertebral bodies, \ and cloverleaf skull.,NCI | lld:umls |
