Microphthalmia, and Hypopigmentation of the skin

Diseases related with Microphthalmia and Hypopigmentation of the skin

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


Top matches:

Low match FOVEAL HYPOPLASIA 1; FVH1


Foveal hypoplasia is defined as the lack of foveal depression with continuity of all neurosensory retinal layers in the presumed foveal area. Foveal hypoplasia as an isolated entity is a rare phenomenon; it is usually described in association with other ocular disorders, such as aniridia (OMIM ), microphthalmia (see {251600}), albinism (see {203100}), or achromatopsia (see {216900}). All reported cases of foveal hypoplasia have been accompanied by decreased visual acuity and nystagmus (summary by Perez et al., 2014). Genetic Heterogeneity of Foveal HypoplasiaFoveal hypoplasia-2 (FVH2 ) is caused by mutation in the SLC38A8 gene (OMIM ) on chromosome 16q23.

FOVEAL HYPOPLASIA 1; FVH1 Is also known as foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract

Related symptoms:

  • Nystagmus
  • Cataract
  • Visual impairment
  • Microphthalmia
  • Depressivity


SOURCES: OMIM MENDELIAN

More info about FOVEAL HYPOPLASIA 1; FVH1

Low match MICROPHTHALMIA-RETINITIS PIGMENTOSA-FOVEOSCHISIS-OPTIC DISC DRUSEN SYNDROME


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

Low match FOVEAL HYPOPLASIA-OPTIC NERVE DECUSSATION DEFECT-ANTERIOR SEGMENT DYSGENESIS SYNDROME


Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome is a rare, genetic, eye disease characterized by foveal hypoplasia, optic nerve misrouting with an increased number of axons decussating at the optic chiasm and innervating the contralateral cortex, and posterior embryotoxon or Axenfeld anomaly (indicating anterior segment dysgenesis), in the absence of albinism. Patients present congenital nystagmus, decreased visual acuity, refractive errors and, ocassionally, strabismus. Microphthalmia and retinochoroidal coloboma may also be associated.

FOVEAL HYPOPLASIA-OPTIC NERVE DECUSSATION DEFECT-ANTERIOR SEGMENT DYSGENESIS SYNDROME Is also known as foveal hypoplasia 2 with optic nerve decussation defects and anterior segment dysgenesis without albinism|fhonda syndrome|foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis|fhonda

Related symptoms:

  • Global developmental delay
  • Nystagmus
  • Strabismus
  • Visual impairment
  • Myopia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FOVEAL HYPOPLASIA-OPTIC NERVE DECUSSATION DEFECT-ANTERIOR SEGMENT DYSGENESIS SYNDROME

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Other less relevant matches:

Low match MRCS SYNDROME


MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400.

MRCS SYNDROME Is also known as microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome|vitreoretinochoroidopathy, autosomal dominant|advirc|vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos|vitreoretinochoroidopathy with microcornea, glaucoma, and cataract

Related symptoms:

  • Nystagmus
  • Strabismus
  • Cataract
  • Visual impairment
  • Myopia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MRCS SYNDROME

Low match COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS; COMMAD


Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cataract


SOURCES: OMIM MENDELIAN

More info about COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS; COMMAD

Low match CURRY-JONES SYNDROME


Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.

CURRY-JONES SYNDROME Is also known as corpus callosum agenesis-polysyndactyly syndrome|craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CURRY-JONES SYNDROME

Low match FANCONI ANEMIA, COMPLEMENTATION GROUP S; FANCS


Fanconi anemia complementation group S is an autosomal recessive disorder characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features. Laboratory studies show defective DNA repair and increased chromosomal breakage during stress. Some patients may have radial ray anomalies, anemia, and increased risk of cancer; patients often have a family history of cancer in family members who have heterozygous mutations (summary by Freire et al., 2018).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP S; FANCS

Low match COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY


COL4A1-related familial vascular leukoencephalopathy is a rare, genetic, neurological disease characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.

COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY Is also known as col4a1-related brain small vessel disease with hemorrhage|leukoencephalopathy with axenfeld-rieger anomaly|brain small vessel disease with axenfeld-rieger anomaly|brain small vessel disease with hemorrhage|infantile hemiparesis|retinal arteriolar tortuosi

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY

Low match NEVUS OF ITO


Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and in rare occasions, mayoccur together with the latter.

NEVUS OF ITO Is also known as incontinentia pigmenti, familial male-lethal type|nevus fuscocaeruleus acromiodeltoideus|ip2, formerly|bloch-sulzberger syndrome|incontinentia pigmenti, type ii, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Neoplasm


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEVUS OF ITO

Low match ISOLATED ANIRIDIA


Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.

ISOLATED ANIRIDIA Is also known as an2, formerly|aniridia ii, formerly|an

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED ANIRIDIA

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

Symptoms // Phenotype % cases
Cataract Common - Between 50% and 80% cases
Congenital cataract Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Microcornea Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Strabismus Hearing impairment Intellectual disability Visual impairment Reduced visual acuity Microcephaly Hypoplasia of the fovea Albinism Coloboma Glaucoma Retinal detachment Neoplasm Astigmatism Myopia Hypertelorism Visual loss Abnormality of skin pigmentation Blindness Aniridia Depressivity Hypermetropia

Rare Symptoms - Less than 30% cases


Amblyopia Agenesis of corpus callosum Ptosis Seizures Hypertonia Retinopathy Presenile cataracts Posterior embryotoxon Achromatopsia Narrow palate Tetraplegia Short stature Sparse hair Failure to thrive Generalized hypotonia Abnormal facial shape Anterior segment developmental abnormality Retinal hemorrhage Anteverted nares Polymicrogyria Shallow anterior chamber Cystoid macular edema Hypoplasia of the iris Blepharophimosis Nyctalopia Bilateral ptosis Ectopia pupillae Rod-cone dystrophy Cone/cone-rod dystrophy Carcinoma High myopia Eosinophilia Hemivertebrae Coarse hair Erythema Pallor Scarring Skin rash Fine hair Papule Nail dystrophy Malabsorption Delayed eruption of teeth Abnormal blistering of the skin Hyperpigmentation of the skin Hypodontia Nevus Leukoencephalopathy Lymphedema Kyphoscoliosis Ectodermal dysplasia Nail dysplasia Increased bone mineral density Posterior leukoencephalopathy Hyperkeratosis Dysphonia Migraine with aura Porencephalic cyst Hypopigmentation of the fundus Anterior synechiae of the anterior chamber Corneal neovascularization Supraventricular tachycardia Increased intraocular pressure Arterial tortuosity Infantile spasms Scotoma Congenital glaucoma Blurred vision Cerebral hemorrhage Hemiplegia Intracranial hemorrhage Neuritis Rieger anomaly Alopecia Thalamic hemorrhage Recurrent infections Immunodeficiency Abnormality of the dentition Optic atrophy Fever Spasticity Retinal arterial tortuosity Polycoria Right hemiplegia Peripapillary atrophy Retinal arteriolar tortuosity Optic neuritis Diffuse leukoencephalopathy Perivascular spaces Hyperostosis Keratitis Nail pits Supernumerary nipple Opacification of the corneal stroma Adrenal insufficiency Anophthalmia Nephroblastoma Ectopia lentis Anosmia Optic nerve hypoplasia Type I diabetes mellitus Limb hypertonia Exotropia Dental crowding Renal dysplasia Recurrent urinary tract infections Choanal atresia Dandy-Walker malformation Falls Hypopituitarism Hand tremor Smooth philtrum Macular hypoplasia Hypoplasia of the antihelix Aplasia/Hypoplasia of the macula Lumbar kyphosis Aphakia Central adrenal insufficiency Vascular tortuosity Retinal vascular tortuosity Action tremor Central hypothyroidism Lower limb hypertonia Abnormal glucose tolerance Ocular pain Decreased light- and dark-adapted electroretinogram amplitude Peters anomaly Hyposmia Arachnodactyly Attention deficit hyperactivity disorder Hypoplastic nipples Breast hypoplasia Retinal vascular proliferation Hyperpigmented streaks Hypohidrotic ectodermal dysplasia Scarring alopecia of scalp Supernumerary ribs Breast aplasia Generalized osteosclerosis Ataxia Thick nail Ridged nail Conical tooth Anodontia Abnormality of the vasculature Pustule Uveitis Atrophic, patchy alopecia Pain Intellectual disability, moderate Micropenis Muscular hypotonia of the trunk Rigidity Macrotia High forehead Hypothyroidism Gait ataxia Hyperactivity Cryptorchidism Diabetes mellitus Hypogonadism Kyphosis Hypoplasia of the corpus callosum Tremor Depressed nasal bridge High palate Spastic paraparesis Stomach cancer Paraparesis Sensorineural hearing impairment Cone dysfunction syndrome Scleral staphyloma Pulverulent cataract Retinal neovascularization Moderate myopia Retinal arteriolar constriction Peripheral retinal atrophy Posterior staphyloma Optically empty vitreous Angle closure glaucoma Chorioretinal hypopigmentation Abnormality of chorioretinal pigmentation Retinal arteriolar occlusion Micrognathia Macrocephaly Macular edema Blue irides Craniosynostosis Polydactyly Brachycephaly Syndactyly Ventriculomegaly Generalized hypopigmentation Osteopetrosis Frontal bossing Shallow orbits Premature graying of hair Preauricular pit Congenital sensorineural hearing impairment Telecanthus Posteriorly rotated ears Vitreous hemorrhage Dyschromatopsia Toe syndactyly Abnormal light- and dark-adapted electroretinogram Esotropia Autistic behavior Macular thickening Foveoschisis Optic disc drusen Scleral thickening Retinal pigment epithelial atrophy Pendular nystagmus Bone spicule pigmentation of the retina Drusen High hypermetropia Retinal degeneration Photophobia Congenital nystagmus Chorioretinal coloboma Axenfeld anomaly Retinal atrophy Abnormality of the eye Macular atrophy Chorioretinal atrophy Abnormal retinal morphology Abnormality of color vision Pigmentary retinopathy Retinal dystrophy Edema Alternating esotropia Abnormality of the skeletal system Optic nerve misrouting Inferior chorioretinal coloboma Moderate hypermetropia Foveal hyperpigmentation Horizontal pendular nystagmus Finger syndactyly Facial asymmetry Hemiparesis Intellectual disability, mild Long eyelashes Low anterior hairline Bone marrow hypocellularity Breast carcinoma Proximal placement of thumb Ovarian neoplasm Chromosome breakage Thick upper lip vermilion Macrodontia Duodenal stenosis Ovarian carcinoma Dysarthria Cardiomyopathy Cerebellar atrophy Headache Hip dislocation Tachycardia Spastic tetraplegia Migraine Muscle cramps Renal cyst Nephropathy Hematuria Abnormality of the cerebral white matter Dilatation Corneal opacity Stroke Facial palsy Abnormality of the nervous system Dementia Elevated serum creatine phosphokinase Dental malocclusion Prominent nasal bridge Hirsutism Hypopigmented skin patches Anal stenosis Cutaneous finger syndactyly Aplasia/Hypoplasia of the skin Basal cell carcinoma Preaxial hand polydactyly Preaxial polydactyly Narrow palpebral fissure Arnold-Chiari type I malformation Generalized hirsutism Horizontal nystagmus Broad thumb Abnormality of the skin Intestinal malrotation Iris coloboma Foot polydactyly Chronic constipation Conductive hearing impairment Anemia Coarse facial features Upslanted palpebral fissure Clinodactyly Intrauterine growth retardation Epicanthus Delayed speech and language development Growth delay Optic nerve coloboma Abnormality of thumb phalanx Duplication of thumb phalanx Hemimegalencephaly Cutaneous syndactyly of toes Anterior plagiocephaly Medulloblastoma Increased proinsulin:insulin ratio



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