Intellectual disability, and Abnormality of skin pigmentation

Diseases related with Intellectual disability and Abnormality of skin pigmentation

In the following list you will find some of the most common rare diseases related to Intellectual disability and Abnormality of skin pigmentation 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

Low match CHOROIDEREMIA

Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina.

CHOROIDEREMIA Is also known as tcd|chm|tapetochoroidal dystrophy|tapetochoroidal dystrophy, progressive

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Cataract
  • Visual impairment
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHOROIDEREMIA

Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Clinical manifestations include mucocutaneous abnormalities, bone marrow failure, and an increased predisposition to cancer, among other variable features (summary by Vulliamy et al., 2008).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Neoplasm
  • Thrombocytopenia
  • Nail dystrophy


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2; DKCB2

Other less relevant matches:

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

Watson syndrome is an autosomal dominant disorder characterized by pulmonic stenosis, cafe-au-lait spots, decreased intellectual ability (Watson, 1967), and short stature (Partington et al., 1985). Most affected individuals have relative macrocephaly and Lisch nodules and about one-third of those affected have neurofibroma (Allanson et al., 1991).

WATSON SYNDROME; WTSN Is also known as cafe-au-lait spots with pulmonic stenosis|pulmonic stenosis with cafe-au-lait spots

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Macrocephaly
  • Pulmonic stenosis


SOURCES: OMIM MENDELIAN

More info about WATSON SYNDROME; WTSN

Related symptoms:

  • Intellectual disability
  • Seizures


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 96; MRX96

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

Spinal neurofibromatosis is an autosomal dominant disorder characterized by a high load of spinal tumors. These tumors may be asymptomatic or result in neurologic symptoms, including back pain, difficulty walking, and paresthesias. Spinal NF is considered to be a subtype of neurofibromatosis type I (NF1 ), which is an allelic disorder. Patients with spinal NF may or may not have the classic cutaneous cafe-au-lait pigmentary macules or ocular Lisch nodules typically observed in patients with classic NF1. Patients with spinal NF should be followed closely for spinal sequelae (summary by Burkitt Wright et al., 2013).

NEUROFIBROMATOSIS, FAMILIAL SPINAL Is also known as fsnf

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Neoplasm
  • Pain
  • Difficulty walking


SOURCES: MESH OMIM MENDELIAN

More info about NEUROFIBROMATOSIS, FAMILIAL SPINAL

Top 5 symptoms//phenotypes associated to Intellectual disability and Abnormality of skin pigmentation

Symptoms // Phenotype % cases
Hypopigmentation of the skin Uncommon - Between 30% and 50% cases
Freckling Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Nyctalopia Uncommon - Between 30% and 50% cases
Blindness Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment Multiple cafe-au-lait spots Hypermetropia Neurofibromas Cafe-au-lait spot Neoplasm

Rare Symptoms - Less than 30% cases

Lisch nodules Growth delay Retinal degeneration Reduced visual acuity Rod-cone dystrophy Photophobia Myopia Neoplasm of the skin Visual impairment Cataract Relative macrocephaly Amblyopia High myopia Falls Ichthyosis Astigmatism Strabismus Nystagmus Seizures Axillary freckling Hypopigmented skin patches Abnormality of the cardiovascular system Blurred vision Pulmonic stenosis Macrocephaly Macular thickening Foveoschisis Optic disc drusen Scleral thickening Abnormal light- and dark-adapted electroretinogram Spinal neurofibromas Shallow anterior chamber Cystoid macular edema Albinism Congenital nystagmus Plexiform neurofibroma Pain Subcutaneous neurofibromas Spinal cord tumor Progressive spastic paraparesis Schwannoma Back pain Spastic paraparesis Paraparesis Paresthesia Lower limb muscle weakness Difficulty walking Scoliosis Retinal pigment epithelial atrophy Depigmented fundus Nystagmus-induced head nodding Giant melanosomes in melanocytes Abnormal macular morphology Macular hypoplasia Hypopigmentation of the fundus Abnormal pupil morphology Pendular nystagmus Ocular albinism Hypoplasia of the fovea Iris hypopigmentation Drusen Bone spicule pigmentation of the retina Abnormality of color vision Choroideremia Decreased light- and dark-adapted electroretinogram amplitude Olivopontocerebellar atrophy Posterior subcapsular cataract Peripheral visual field loss Central scotoma Subcapsular cataract Scotoma Abnormal retinal morphology Chorioretinal atrophy Constriction of peripheral visual field Mottled pigmentation Abnormal electroretinogram Abnormality of vision Abnormality of retinal pigmentation Progressive visual loss Retinal dystrophy Progressive hyperpigmentation Hyperkeratosis Abnormality of the eye Hyperpigmentation of the skin Visual loss Chorioretinal degeneration Progressive night blindness High hypermetropia Ataxia Cone/cone-rod dystrophy Congenital cataract Macule Glaucoma Microphthalmia Chromosomal breakage induced by ionizing radiation Telangiectasia Vitiligo Immunodeficiency Spasticity Microcephaly Choriocapillaris atrophy Multiple lentigines Reticulated skin pigmentation Testicular atrophy Bone marrow hypocellularity Pancytopenia Cerebral calcification Nail dysplasia Cirrhosis Nail dystrophy Thrombocytopenia Symmetric spinal nerve root neurofibromas


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