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148 Possible Causes for Alopecia, Variable Psychomotor Retardation

  • Bjornstad Syndrome

    alopecia, alopecia areata, congenital alopecia, and specific problems posed by alopecia in patients of African and Asian origin.[books.google.it] Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and[genecards.org] Prenatal None listed Incidence Very rare approximateIy 25 cases reported; M F Age at Presentation By 2 years old Pathogenesis Unknown Clinical Hair Pili torti with/without alopecia[cram.com]

  • Laron Syndrome

    Large variability, ranging from normal intelligence to severe mental retardation has been reported 22.[hormones.gr] Young adults have various degrees of alopecia, more pronounced in males.[ncbi.nlm.nih.gov] Ateliotic dwarfism without insulinopenia Congenital malformation syndromes associated with short stature Constitutional short stature Dolichocephalic dwarfism Dwarfism Dwarfism, alopecia[icd9data.com]

  • Argininosuccinic Aciduria

    The characteristic symptoms are either those of overwhelming metabolic disease in the newborn period, or variable psychomotor retardation.[ncbi.nlm.nih.gov]

  • Dubowitz Syndrome

    […] dysostosis syndrome Skin fragility-woolly hair-palmoplantar keratoderma syndrome Osteopathia striata cranial sclerosis Brachycephalofrontonasal dysplasia Thumb deformity, alopecia[checkrare.com] The phenotypic spectrum is quite variable and ranges from normal growth and head circumference with mild psychomotor retardation and lack of eczema to a condition of severe[ncbi.nlm.nih.gov] […] psychomotor retardation Pillay syndrome Glucose-galactose malabsorption Spastic ataxia Charlevoix-Saguenay type Autosomal dominant palmoplantar keratoderma and congenital alopecia[checkrare.com]

  • Cockayne Syndrome

    Cockayne syndrome is characterized by a wide clinical variability ranging from prenatal features to normal psychomotor development.[latunisiemedicale.com] Our patient had intrauterine growth retardation, a little postnatal neurologic development, a severe clinical form of Cockayne syndrome.[latunisiemedicale.com]

  • Rosselli-Gulienetti Syndrome

    retardation, variable Head And Neck Teeth: microdontia hypodontia anodontia Skin Nails Hair Hair: sparse eyelashes sparse eyebrows hypotrichosis, progressive sparse, abnormal[malacards.org] (AADH) syndrome Johnson-McMillin syndrome 147770 Alopecia mental retardation syndrome Perniola syndrome 203650 Alopecia-onchodysplasia-hypohidrosis syndrome Alopecia-onchodysplasia-hypohidrosis-hyperkeratosis-deafness[keratin.com] Affected individuals show psychomotor retardation and growth retardation, and most have short stature.[mendelian.co]

  • Psychomotor Retardation

    BACKGROUND: Several genes have been implicated in a highly variable presentation of developmental delay with psychomotor retardation.[ncbi.nlm.nih.gov] […] group of neurocutaneous disorders in which congenital alopecia is the solitary cutaneous manifestation.[ncbi.nlm.nih.gov] psychomotor retardation (PMR).[ncbi.nlm.nih.gov]

  • Cutis Laxa

    […] mutations in ATPase H transporting V0 subunit a2 (ATP6VOA2) gene; pyrroline-5-carboxylate reductase 1 deficiency; pyrroline-5-carboxylate synthase deficiency; macrocephaly, alopecia[ncbi.nlm.nih.gov] Progeroid symptoms, dysmorphic features, hypotonia and psychomotor retardation are highly overlapping in the early phase of these disorders.[ncbi.nlm.nih.gov] […] hemoglobinopathy hereditary elliptocytosis hereditary spherocytosis Lethal Congenital Nonspherocytic Hemolytic Anemia with Genital and Other Abnormalities Macrocephaly, Alopecia[rgd.mcw.edu]

  • Autosomal Dominant Chondrodysplasia Punctata

    retardation, spasticity and early death6.[jped.com.br] They both had patches of alopecia, bilateral cataracts, short little fingers, and a mild scoliosis.[docslide.com.br] Clinically, the patient presented with ichthyotic skinchanges, irregular foci of alopecia, shortening of permanentlyflexed and spastic limbs, micrognathia; flattened nose,[rb.org.br]

  • Otoonychoperoneal Syndrome

    […] oblique facial clefts Oculomelic amyoplasia Oculopalatoskeletal syndrome Oculopharyngeal muscular dystrophy Oculorenocerebellar syndrome Od-Ok Odonto onycho dysplasia with alopecia[wikidoc.org] Affected individuals show psychomotor retardation and growth retardation, and most have short stature.[mendelian.co] […] facial clefts * Oculomelic amyoplasia * Oculopalatoskeletal syndrome * Oculopharyngeal muscular dystrophy * Oculorenocerebellar syndrome Od-Ok * Odonto onycho dysplasia with alopecia[en.academic.ru]

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