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16 Possible Causes for Blue Eyes, Cafe-Au-Lait Spots, Premature Graying of the Hair

  • Waardenburg Syndrome Type 2E

    Waardenburg syndrome type 2E Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Anosmia White eyebrow Abnormality of the integument Cafe-au-lait[familydiagnosis.com] People with this condition often have very pale blue eyes or different colored eyes, such as one blue eye and one brown eye.[ghr.nlm.nih.gov] , such as heterochromia iridis (differently coloured eyes), which may be complete, partial, or segmental ; isohypochromia iridis (pale blue eyes); or abnormal pigmentation[dermnetnz.org]

  • Cockayne Syndrome

    A syndrome of prenatal growth deficiency with postnatal immature bone development, developmental asymmetry, abnormal sexual development, small triangular face, cafe-au-lait[icd10data.com] Main characteristics are dwarfism with disproportionately long extremities and large hands and feet, kyphosis, cold blue extremities, beak-like nose giving the patient a prematurely[whonamedit.com] Some may develop bits of gray hair, wrinkled skin or high blood pressure. Those with severe cases often live only a few years.[globalgenes.org]

  • Ring Chromosome 15

    CONCLUSION: Ring chromosome 15 syndromes should be considered in a case having short stature with cafe-au-lait spots.[msjonline.org] Dysmorphic features are well recognized: microcephaly, prominent mandible, pointed chin, protruding tongue, and fair hair and complexion with blue eyes.[epilepsydiagnosis.org] graying-like hypopigmentation of scalp hair.[ncbi.nlm.nih.gov]

  • Macrocephaly

    au lait spots suggesting the possible diagnosis of neurofibromatosis (NF) Type 1.[ep.bmj.com] eyes.[ptenlife.com] All four parents have congenital sensorineural hearing loss, blue irides and fair skin with premature graying of hair.[disorders.eyes.arizona.edu]

  • Coats Plus Syndrome

    Read More Neurofibromatosis Type 1 When I was three I was diagnosed with Neurofibromatosis Type 1, after my parents noticed multiple cafe au lait spots over me.[rarediseasedayaustralia.com.au] […] his eyes flashed upward to say, "I am!" By this time we had figured out how to communicate with an alphabet board.[glamour.com] Less common features of Coats plus syndrome can include sparse, prematurely gray hair; malformations of the fingernails and toenails; and abnormalities of skin coloring (pigmentation[ghr.nlm.nih.gov]

  • Dyschromatosis symmetrica hereditaria

    […] nigricans ADULT syndrome Anonychia with Flexural Pigmentation Argyria BADS syndrome Basaran Yilmaz Syndrome Bloch-Sulzberger syndrome Bullous Dystrophy, Hereditary Macular Type Cafe-au-Lait[rgd.mcw.edu] He is very fair with almost white blond hair and blue eyes.[tratu.soha.vn] In addition, there is a high incidence of premature graying of scalp hair in patients with vitiligo and in their families.[what-when-how.com]

  • Progeria

    Other FA symptoms are only marginally associated with an accelerated aging phenotype: hearing impairment, skeletal abnormalities, cardiac abnormalities, and cafe-au-lait skin[benbest.com] Hayley's mother Kerry has previously said: "[When she was born] she had fine blonde hair, blue eyes and her father and I were besotted with her.[telegraph.co.uk] These patients's clinical features include progeroid manifestations, such as short stature, prominent nose, premature graying of hair, partial alopecia, skin atrophy, lipodystrophy[ncbi.nlm.nih.gov]

  • Generalized Peeling Skin Syndrome

    Diagnostic value of the cafe au lait spot in children. Arch Dis Child 1966; 41: 316-9. Alper JC, Holmes LB.[drmhijazy.com] The nose and eyes run continuously: the classic sign of measles.[atsu.edu] The hair may be sparse and prematurely gray. Diagnosis The syndrome must be differentiated from others in which there is intrauterine dwarfism.[drmhijazy.com]

  • Moynahan Syndrome

    [from OMIM:151100 , 2015.04.10] Molecular information A study screened 9 patients with LEOPARD syndrome, and 2 children with Noonan syndrome who had multiple cafe-au-lait[flybase.org] This disorder produces a milky white skin, white hair, blue eyes and photophobia.[medassignments.com] graying of hair, confluent thick eyebrows, heterochromic irides or hypopigmentation of iris, laterally displacy inner canthi, congenital sensorinerual deafness, broad nasal[senyawa-kimia.blogspot.com]

  • Colobomatous Microphthalmia - Rhizomelic Dysplasia Syndrome

    au lait spots - Crowe sign (axillary freckle like cafe au lait) - chr 12q, autosomal dominant (variable) - normal karyotypes - can be male or female - short stature, webbed[quizlet.com] The distance between the two eyes appears reduced. Blue sclerae, nystagmus, strabismus, and glaucoma are present in 10 to 30% of patients.[disorders.eyes.arizona.edu] […] habitus - cranial nerve 6 & 7th palsies (bilateral facial weakness) - MUllerian duct aplasia - Renal Aplasia - Cervicothoracic Somite dysplasia - AD inheritance - multiple cafe[quizlet.com]

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