Disorder |
Inheritance |
Specific features |
---|
DNA Maintenance and Transcription |
Cockayne syndrome, Type 1 |
AR |
Mental retardation, accelerated aging, marked growth retardation, pigmentary retinopathy, optic atrophy, deafness, marble epiphyses, photosensitivity, calcification of basal ganglia, cerebellum. |
Cerebro-oculofacioskeletal (COFS) syndrome |
AR |
Microcephaly, microphthalmia, cataracts, dysmorphism, failure to thrive, recurrent pneumonias, axial hypotonia, limb hypertonia, hyperreflexia, progressive contractures. Calcification in periventricular frontal white matter, basal ganglia. |
Progeria |
AR |
Short stature, failure to thrive; accelerated aging, with loss of scalp hair and subcutaneous fat, joint stiffness, strokes, myocardial infarcts (due to early atherosclerosis), premature death. Cognition spared. |
Xeroderma pigmentosum (including de Sanctis-Cacchione syndrome) |
AR |
Mental retardation, short stature, facial freckles, spasticity, hypogonadism, olivopontocerebellar atrophy. |
Trichothiodystrophy (TTD 1) |
AR |
Mental retardation, hair shaft abnormalities, ichthyosis, immature sexual development, short stature, facial dysmorphism |
Rett syndrome |
X-linked |
Classic phenotype restricted to females. Normal development for first six months, followed by acquired microcephaly, loss of hand skills and replacement by stereotypies, regression of skills, seizures, spasticity, scoliosis |
Spinal muscular atrophy 1, 2, 3 |
AR |
Loss of anterior horn cells; limb weakness, loss of tendon jerks; visible fasciculation may be limited to tongue in infantile type 1. |
DNA Translation and Post-translational Modification |
CACH, Cree leukoencephalopathy, ovarioleukodystrophy |
AR |
Slowly progressive ataxia with diffuse loss of white matter. Episodes of coma with fever, minor trauma |
Congenital disorder of glycosylation 1a (CDG 1a) |
AR |
Mental retardation, short stature, progressive ataxia, peripheral neuropathy, stroke-like episodes, seizures, immune dysfunction, intermittent hepatic failure, coagulopathies |
Cell Cycle Regulation |
Angelman syndrome |
Multiple mechanisms (see Ch 81) |
Psychomotor retardation, ataxia, hypotonia, epilepsy, absence of speech, large mandible, tongue thrusting. Optic atrophy, albinism in some. |
Ataxia telangiectasia |
AR |
Progressive ataxia, choreoathetosis, anterior horn cell loss, immune deficiency, scleral telangiectasia. |
Seckel syndrome 1 |
AR |
Short stature, dysmorphism (congenital microcephaly, mental retardation. No immune deficiency or cancers. |
CACH, childhood ataxia with CNS hypomyelinization (formerly vanishing white matter disease). |
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