Intellectual disability, and Hypopigmentation of the skin

Diseases related with Intellectual disability and Hypopigmentation of the skin

In the following list you will find some of the most common rare diseases related to Intellectual disability and Hypopigmentation of the skin that can help you solving undiagnosed cases.

Top matches:

Familial progressive hyperpigmentation with or without hypopigmentation (FPHH) is characterized by diffuse hyperpigmentation of variable intensity sometimes associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules. These features, which involve the face, neck, trunk, and limbs, are seen at birth or develop early in infancy (summary by Wang et al., 2009 and Amyere et al., 2011).Also see familial progressive hyperpigmentation (FPH1 ).

HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE; FPHH Is also known as melanosis universalis hereditaria|hyperpigmentation, familial progressive, 2, formerly|muh|fph2, formerly

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Neoplasm
  • Hyperkeratosis
  • Hypopigmentation of the skin


SOURCES: OMIM MENDELIAN

More info about HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE; FPHH

Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly.

NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER Is also known as microcephaly and chromosomal instability without immunodeficiency|nbsld|microcephaly and spontaneous chromosome instability without immunodeficiency|nbs-like disorder|rad50 deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Ataxia
  • Spasticity


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER

Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localized foveal schisis and optic disc drusen. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity, and, on occasion, acute-angle glaucoma.

MICROPHTHALMIA-RETINITIS PIGMENTOSA-FOVEOSCHISIS-OPTIC DISC DRUSEN SYNDROME Is also known as nanophtalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome|microphthalmia, posterior, with retinitis pigmentosa, foveoschisis, and optic disc drusen

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Cataract
  • Blindness
  • Microphthalmia


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROPHTHALMIA-RETINITIS PIGMENTOSA-FOVEOSCHISIS-OPTIC DISC DRUSEN SYNDROME

Other less relevant matches:

X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males.

X-LINKED RECESSIVE OCULAR ALBINISM Is also known as ocular albinism type 1|ocular albinism, nettleship-falls type|nettleship-falls type ocular albinism|oa1|xloa

Related symptoms:

  • Intellectual disability
  • Short stature
  • Nystagmus
  • Strabismus
  • Visual impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about X-LINKED RECESSIVE OCULAR ALBINISM

Attenuated Chédiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS (see this term), a genetic disorder characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.

ATTENUATED CHÉDIAK-HIGASHI SYNDROME Is also known as atypical chÉdiak-higashi syndrome

Related symptoms:

  • Intellectual disability
  • Peripheral neuropathy
  • Hypertonia
  • Immunodeficiency
  • Recurrent respiratory infections


SOURCES: ORPHANET MENDELIAN

More info about ATTENUATED CHÉDIAK-HIGASHI SYNDROME

Aland Island Eye Disease (AIED) is an X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia.

ÅLAND ISLANDS EYE DISEASE Is also known as aied|forsius-eriksson type ocular albinism|forsius-eriksson syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Nystagmus
  • Myopia
  • Blindness


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ÅLAND ISLANDS EYE DISEASE

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about AL-RAQAD SYNDROME; ARS

Elejalde syndrome (ES) is characterized by silvery to leaden hair, bronze skin colour in sun-exposed areas and severe neurological impairment.

NEUROECTODERMAL MELANOLYSOSOMAL DISEASE Is also known as elejalde disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about NEUROECTODERMAL MELANOLYSOSOMAL DISEASE

Waardenburg syndrome type 4 (WS4), also known as Waardenburg-Shah syndrome, is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010). WS type 4A is caused by mutation in the EDNRB gene (OMIM ). Clinical Variability of Waardenburg Syndrome Types 1-4Waardenburg syndrome has been classified into 4 main phenotypes. Type I Waardenburg syndrome (WS1 ) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type II (WS2) is distinguished from type I by the absence of dystopia canthorum. WS type III (WS3 ) has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type 4 has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010). Genetic Heterogeneity of Waardenburg Syndrome Type 4Waardenburg syndrome type 4 is genetically heterogeneous. WS4B (OMIM ) is caused by mutation in the EDN3 gene (OMIM ) on chromosome 20q13, and WS4C (OMIM ) is caused by mutation in the SOX10 gene (OMIM ) on chromosome 22q13.

WAARDENBURG SYNDROME, TYPE 4A; WS4A Is also known as waardenburg-shah syndrome|waardenburg syndrome, type iva|ws4|waardenburg syndrome with hirschsprung disease, type 4a|shah-waardenburg syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about WAARDENBURG SYNDROME, TYPE 4A; WS4A

Classical phenylketonuria is a severe form of phenylketonuria (PKU, see this term) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications.

CLASSIC PHENYLKETONURIA Is also known as classic pku

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC PHENYLKETONURIA

Top 5 symptoms//phenotypes associated to Intellectual disability and Hypopigmentation of the skin

Symptoms // Phenotype % cases
Global developmental delay Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases
Hypermetropia Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Abnormality of skin pigmentation Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intellectual disability and Hypopigmentation of the skin. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Blindness Myopia Ataxia Microcephaly Ocular albinism Hypertonia Growth delay Nyctalopia

Rare Symptoms - Less than 30% cases

Photophobia Recurrent respiratory infections Abnormality of movement Hypopigmentation of hair Hypoplasia of the fovea Congenital nystagmus Giant melanosomes in melanocytes Albinism Falls Tremor Strabismus Muscular hypotonia Seizures Hypopigmentation of the fundus Premature graying of hair Astigmatism Reduced visual acuity Spasticity Neoplasm of the skin Immunodeficiency Hearing impairment Hypopigmented skin patches Cataract Freckling Generalized hyperpigmentation Macular dystrophy Eczema Cerebral calcification Muscle stiffness Specific learning disability Rigidity Cerebral cortical atrophy Cerebellar hypoplasia Memory impairment Optic atrophy Hemiplegia Subcortical cerebral atrophy Neonatal hypotonia Short nose Motor deterioration Absent speech Narrow mouth Thin upper lip vermilion Deeply set eye Joint laxity Self-injurious behavior Abnormal cardiac septum morphology Unsteady gait Flat face Inability to walk Sandal gap Hyperplasia of the maxilla Lack of skin elasticity Abnormality of the optic nerve Cerebral cortical hemiatrophy Abnormality of the cerebellar vermis Leukodystrophy Hyperreflexia Hypoganglionosis Behavioral abnormality Piebaldism Microcolon White eyebrow White eyelashes Unilateral ptosis White forelock Heterochromia iridis Blue irides Congenital sensorineural hearing impairment Intestinal obstruction Spastic paraparesis Depressivity Paraplegia Wide nasal bridge Intellectual disability, severe Aplasia/Hypoplasia of the macula Nausea and vomiting Sensorineural hearing impairment Ptosis Attention deficit hyperactivity disorder Intellectual disability, mild Aganglionic megacolon Mental deterioration Telecanthus Synophrys Autism Polyneuropathy Motor delay Brachydactyly Abnormality of color vision Low-set ears Abnormal light- and dark-adapted electroretinogram High hypermetropia Drusen Bone spicule pigmentation of the retina Retinal pigment epithelial atrophy Cystoid macular edema Shallow anterior chamber Scleral thickening Retinal degeneration Optic disc drusen Foveoschisis Macular thickening Visual impairment Ichthyosis High myopia Cone/cone-rod dystrophy Congenital cataract Blurred vision Multiple cafe-au-lait spots Neoplasm Hyperkeratosis Cafe-au-lait spot Hyperpigmentation of the skin Neurofibromas Macule Vitiligo Glaucoma Multiple lentigines Progressive hyperpigmentation Telangiectasia Chromosomal breakage induced by ionizing radiation Microphthalmia Rod-cone dystrophy Amblyopia Iris hypopigmentation Abnormal facial shape Tapetoretinal degeneration Abnormal electroretinogram Abnormal retinal morphology Severe vision loss Adrenal hypoplasia Dyschromatopsia Congenital stationary night blindness Achromatopsia Abnormality of the eye Congenital adrenal hypoplasia Protanopia Axial myopia Incomplete congenital stationary night blindness Difficulty adjusting from light to dark Generalized hypotonia Muscular dystrophy Hypogonadism Pendular nystagmus Bruising susceptibility Abnormal pupil morphology Macular hypoplasia Abnormal macular morphology Nystagmus-induced head nodding Depigmented fundus Peripheral neuropathy Abnormality of extrapyramidal motor function Abnormality of metabolism/homeostasis Epistaxis Skin ulcer Incoordination Abnormality of coagulation Gingival bleeding Generalized hypopigmentation Hyperphenylalaninemia


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