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Copyright V. Ventruto / A. Di Luccio Genus database 20432 Pelizaeus-Merzbacher-like Eponyms: Inheritance: Pelizaeus-Merzbacher with normal proteolipid protein PMLD X-linked recessive Semeiological Neuro-oculo-oto disorder. Nystagmoid eye movements, head jerking and rolling, ataxia, spasticity, choreic movements, optic atrophy, laringeal stridor, microcephaly, no proteolipid- protein defect. Synthesis: Group Sub group Signs: AUDITORY DISORDERS deafness deafness sensorineural, including unspecified type deafness, in syndromic association JOINT DISORDERS joint, laxity, dislocations hip dislocation joint, mobility reduction contractures, joint stifness, not including: arthrogriposis, camptodactyly LABORATORY DATA chromosomal assignment chromosome X localization chromosome Xq localization tissue, biochemical changes neural structures changes MUSCULAR DISEASES systemic muscular defects hypotonia, muscular weakness, muscular hypoplasia, myastenia, not including atyrophy NEUROLOGICAL DISORDERS brain anomalies brain hypodeveloped, brain atrophy, brain degeneration, encephalopathy, including cerebral palsy microcephaly, microcrania mental retardation mental retardation neurological dysfunctions cerebellar ataxia, sensory ataxia choreoathetosis, coordination disorders, apraxia/dyspraxia not including: ocular rigidity spasm, spastic paralysis, spastic paraplegia OCULAR DISORDERS eye, motility defects nystagmus strabismus convergent, esotropia, misalignment of the visual axes of the eyes optical nerve defects optic atrophy OROCRANIOFACIAL ANOMALIES facies, modified appearance dysmorphic face facial dysmorphism due to cranial changes including microcephaly facies, amimic, expressionless mandibular changes micrognathia, mandibular hypoplasia, small jaw, not including: severe micrognathia, agnathia Pelizaeus-Merzbacher-like Page 1 of 2 Copyright V. Ventruto / A. Di Luccio Genus database palatopharyngeal changes uvula, bifida, cleft OTHERS inheritance inheritance, X-linked recessive supergroups arthro-oculo-oto disorders facio-neuro-oculo-oto disorders PRENATAL-NEONATAL MODIFIED DATA foetal changes foetal changes, recognized by laboratory data foetal changes, recognized by ultrasound techniques prenatal diagnosis prenatal diagnosis, echographic prenatal diagnosis, molecular Super group: arthro-oculo-oto disorders ataxia-mental retardation dysmorphic face-mental retardation: deafness facio-neuro-ocular disorders facio-neuro-oculo-oto disorders Super aggreg. DEAFNESS deafness, in syndromic association Aggregations: FOETAL CHANGES foetal changes, recognized by laboratory data foetal changes, recognized by ultrasound techniques OTHER craniofacial dysmorphism due to cranial changes, including microcephaly dysmorphic face Differential diagnosis: 790 28198 14720 14740 14750 14725 18055 18100 19240 20430 23360 23490 Bibliography Pelizaeus-Merzbacher-like adrenoleukodystrophy, X-linked Arts syndrome leukodystrophy, globoid cell type metachromatic leukodystrophy, juvenile type metachromatic leukodystrophy, late infantile type metachromatic leukodystrophy, variant type Neuhauser-Eichner-Opitz neuroaxonal dystrophy, infantile optico-cochleodentate degeneration Pelizaeus-Merzbacher syndrome 1 Schimke-Horton syndrome sclerosis cerebral, Scholtz type OMIM ID: 311601 Page 2 of 2
