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MASA syndrome is a rare X-linked recessive neurological disorder on the L1 disorder spectrum belonging in the group of hereditary spastic paraplegias [1] a paraplegia known to increase stiffness spasticity in the lower limbs. [2] This syndrome also has two other names, CRASH [3] syndrome and Gareis-Mason syndrome.
Caudal regression syndrome, or sacral agenesis (or hypoplasia of the sacrum), is a rare birth defect. It is a congenital disorder in which the fetal development of the lower spine—the caudal partition of the spine—is abnormal. [1] It occurs at a rate of approximately one per 60,000 live births. [2]
Proteus syndrome is a rare genetic disorder [1] that can cause tissue overgrowth involving all three embryonic lineages. Patients with Proteus syndrome tend to have an increased risk of embryonic tumor development. [2] The clinical symptoms and radiographic findings of Proteus syndrome are highly variable, as are its orthopedic manifestations ...
Microcephaly is a disorder in which the fetus has an atypically small head, [62] cerebral calcifications means certain areas of the brain have atypical calcium deposits, [63] and meningoencephalitis is the enlargement of the brain. All three disorders cause abnormal brain function or intellectual disability.
Congenital Disorder of Glycosylation (CDG) Congenital hyperinsulinism; Congenital insensitivity to pain with anhidrosis (CIPA) Congenital pulmonary airway malformation (CPAM) Conjoined twins; Costello syndrome; Craniopagus parasiticus; Cri du chat syndrome; Cyclopia; Cystic fibrosis
The Mayo Clinic defines it as "a rare disorder found at birth involving problems in the development of certain blood vessels, soft tissues (such as skin and muscles), bones and sometimes the ...
But on January 11, when Fisher gave birth, doctor's diagnosed her baby with a rare condition called Treacher Collins syndrome, which is a rare congenital disorder characterized by facial, such as ...
Kostmann disease is a form of severe congenital neutropenia (SCN), specifically type 3 (SCN3), [15] which is a rare autosomal recessive condition in which severe chronic neutropenia is detected soon after birth. [7] [16] The disorder was discovered in 1956 in an extended family in northern Sweden by Rolf Kostmann, a Swedish doctor. [17] [18]