Microphthalmia, and Intellectual disability, mild

Diseases related with Microphthalmia and Intellectual disability, mild

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

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High match FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME

Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism.

FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME Is also known as alx4-related fndag|frontonasal dysplasia type 2|frontonasal dysplasia with alopecia and genital abnomality|craniofrontonasal dysplasia with alopecia and hypogonadism

Related symptoms:

Hypertelorism
Nystagmus
Strabismus
Cryptorchidism
Low-set ears

SOURCES: ORPHANET MENDELIAN

More info about FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME

High match X-LINKED DOMINANT CHONDRODYSPLASIA, CHASSAING-LACOMBE TYPE

X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.

X-LINKED DOMINANT CHONDRODYSPLASIA, CHASSAING-LACOMBE TYPE Is also known as x-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome

Related symptoms:

Intellectual disability
Short stature
Growth delay
Micrognathia
Low-set ears

SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED DOMINANT CHONDRODYSPLASIA, CHASSAING-LACOMBE TYPE

High match OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME

Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures.

OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME Is also known as oppg|osteogenesis imperfecta, ocular form|ocular form of osteogenesis imperfecta|ops

Related symptoms:

Intellectual disability
Global developmental delay
Short stature
Generalized hypotonia
Microcephaly

SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME

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High match FRONTONASAL DYSPLASIA-SEVERE MICROPHTHALMIA-SEVERE FACIAL CLEFTING SYNDROME

Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome is a rare, genetic, orofacial clefting malformation syndrome characterized by severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphtalmia and hypertelorism, frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region.

FRONTONASAL DYSPLASIA-SEVERE MICROPHTHALMIA-SEVERE FACIAL CLEFTING SYNDROME Is also known as alx1-related frontonasal dysplasia|frontonasal dysplasia type 3

Related symptoms:

Intellectual disability
Hypertelorism
Cleft palate
Cataract
Ptosis

SOURCES: ORPHANET OMIM MENDELIAN

More info about FRONTONASAL DYSPLASIA-SEVERE MICROPHTHALMIA-SEVERE FACIAL CLEFTING SYNDROME

High 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

High match SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME

Solitary median maxillary central incisor syndrome (SMMCI) is a complex disorder consisting of multiple, mainly midline, defects of development resulting from unknown factor(s) operating in utero from about the 35th-38th day after conception.

SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME Is also known as single central maxillary incisor|smmci|fused incisors|single upper central incisor|incisors, fused

Related symptoms:

Intellectual disability
Seizures
Short stature
Microcephaly
Scoliosis

SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME

High match MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS

Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015). Genetic Heterogeneity of Congenital Symmetric Circumferential Skin CreasesCSCSC2 (OMIM ) is caused by mutation in the MAPRE2 gene (OMIM ) on chromosome 18q12.

MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS Is also known as congenital circumferential skin folds|skin creases, multiple benign ring-shaped, of limbs|kunze-riehm syndrome|ccsf|circumferential skin creases, kunze type|michelin tire baby syndrome

Related symptoms:

Intellectual disability
Seizures
Global developmental delay
Short stature
Generalized hypotonia

SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS

High match CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME

Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.

CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME Is also known as ccfdn|cataract, congenital, with facial dysmorphism and neuropathy

Related symptoms:

Intellectual disability
Global developmental delay
Short stature
Hearing impairment
Scoliosis

SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME

High match BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE

Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.

Related symptoms:

Intellectual disability
Global developmental delay
Generalized hypotonia
Hearing impairment
Microcephaly

SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE

High match MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation is an autosomal dominant disorder that involves an overlapping but variable spectrum of central nervous system and ocular developmental anomalies. Microcephaly ranges from mild to severe and is often associated with mild to moderate developmental delay and a characteristic facial phenotype with upslanting palpebral fissures, broad nose with rounded tip, long philtrum with thin upper lip, prominent chin, and prominent ears. Chorioretinopathy is the most common eye abnormality, but retinal folds, microphthalmia, and myopic and hypermetropic astigmatism have also been reported, and some individuals have no overt ocular phenotype. Congenital lymphedema, when present, is typically confined to the dorsa of the feet, and lymphoscintigraphy reveals the absence of radioactive isotope uptake from the webspaces between the toes (summary by Ostergaard et al., 2012). Robitaille et al. (2014) found that MCLMR includes a broader spectrum of ocular disease, including retinal detachment with avascularity of the peripheral retina, and noted phenotypic overlap with familial exudative vitreoretinopathy (FEVR; see EVR1, {133780}).Birtel et al. (2017) observed intrafamilial and intraindividual variability in retinal phenotype, and noted that syndromic manifestations in some patients are too subtle to be detected during a routine ophthalmologic evaluation. Variable expressivity and reduced penetrance have also been observed in some families (Jones et al., 2014; Li et al., 2016).Autosomal recessive forms of microcephaly with chorioretinopathy have been reported (see {251270}).See also Mirhosseini-Holmes-Walton syndrome (autosomal recessive microcephaly with pigmentary retinopathy and mental retardation; {268050}), which has been mapped to chromosome 8q21.3-q22.1.

MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR Is also known as lymphedema, microcephaly, chorioretinopathy syndrome|cdmmr syndrome|mlcrd syndrome|lymphedema and retinal folds with microcephaly and microphthalmos|microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant|microcephaly, ly

Related symptoms:

Intellectual disability
Seizures
Global developmental delay
Short stature
Generalized hypotonia

SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR

Top 5 symptoms//phenotypes associated to Microphthalmia and Intellectual disability, mild

Symptoms // Phenotype	% cases
Intellectual disability	Common - Between 50% and 80% cases
Microcephaly	Common - Between 50% and 80% cases
Global developmental delay	Common - Between 50% and 80% cases
Short stature	Common - Between 50% and 80% cases
Micrognathia	Uncommon - Between 30% and 50% cases

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Other less frequent symptoms

Patients with Microphthalmia and Intellectual disability, mild. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Intrauterine growth retardation Hearing impairment Cataract Nystagmus Abnormal facial shape Microcornea Seizures Generalized hypotonia Epicanthus Cleft palate Depressed nasal bridge Low-set ears Strabismus Ptosis Wide nasal bridge Hypoplasia of the corpus callosum Posteriorly rotated ears Congenital cataract Retinopathy Amblyopia Glaucoma Scoliosis Growth delay Hypertelorism Corneal opacity Agenesis of corpus callosum Upslanted palpebral fissure Cryptorchidism Anteverted nares Abnormality of the dentition Motor delay Brachycephaly Scrotal hypoplasia

Rare Symptoms - Less than 30% cases

Long philtrum Thickened skin Abnormal heart morphology Talipes equinovarus Narrow mouth Low-set, posteriorly rotated ears Blepharophimosis Retinal dysplasia Vitreoretinopathy Microtia Cleft lip Tetralogy of Fallot Camptodactyly of finger Delayed speech and language development Specific learning disability Joint laxity Severe short stature Hamartoma Atrial septal defect Intellectual disability, severe Thin upper lip vermilion Anophthalmia Retinal detachment Astigmatism Hypermetropia Cardiomyopathy Myopia Edema Optic nerve hypoplasia Hypothyroidism Full cheeks Bifid nose Telecanthus Depressed nasal ridge Abnormality of the skeletal system Platyspondyly Short nose Severe platyspondyly Underdeveloped nasal alae Muscle weakness Muscular hypotonia Visual impairment Short philtrum Frontal bossing Blindness Osteoporosis Kyphoscoliosis Hypogonadism Babinski sign Pes cavus Cerebral atrophy Retinal fold Kyphosis Chylothorax Hypoglycemia Proximal muscle weakness Myalgia Ventriculomegaly Abnormal pyramidal sign Dysmetria Paresthesia Small hand Secondary amenorrhea Cerebral cortical atrophy Hypogonadotrophic hypogonadism Axonal degeneration Intention tremor Hypergonadotropic hypogonadism Long eyelashes Split hand Primary amenorrhea CNS hypomyelination Postural tremor Interphalangeal joint contracture of finger Sensory neuropathy Amenorrhea Peripheral demyelination Tremor Decreased testicular size Decreased motor nerve conduction velocity Chorea Polyneuropathy Skin ulcer Prominent nasal tip Fever Generalized hirsutism Tricuspid regurgitation Panniculitis Retinal thinning Overfolded helix Exudative vitreoretinopathy Chorioretinal dysplasia Cutis laxa Myopic astigmatism Overlapping toe Hypoplasia of dental enamel Abnormality of the face Hypertrichosis Short palpebral fissure Dandy-Walker malformation Melanonychia Febrile seizures Wide intermamillary distance Erysipelas Long fingers Peripheral neuropathy Upper limb asymmetry Cognitive impairment Congenital microcephaly Ataxia Axonal loss Abnormal nasolacrimal system morphology Localized neuroblastoma Increased number of skin folds Abnormality of the scrotum Median cleft palate Abnormality of the musculature Broad eyebrow Periorbital fullness Lower limb asymmetry External ear malformation Irregular hyperpigmentation Hypoplastic nipples Neuroblastoma Cerebellar vermis atrophy Rhabdomyolysis Abnormality of peripheral nerve conduction Myoglobinuria Macrotia Scaling skin Leukemia Attention deficit hyperactivity disorder Protruding ear Aggressive behavior Neonatal hypotonia Rigidity Mandibular prognathia Patent foramen ovale Reduced visual acuity Hyperactivity Prominent forehead Visual loss Hypertonia Downslanted palpebral fissures Optic atrophy Spasticity Dry skin Bilateral ptosis Multiple bladder diverticula Pigmentary retinopathy Lymphedema Abnormality of retinal pigmentation Subcutaneous nodule Thick lower lip vermilion Status epilepticus Bilateral sensorineural hearing impairment Sloping forehead Muscle stiffness Overgrowth Wide nose Lymphoma Broad nasal tip Sleep disturbance Thick vermilion border Retinal dystrophy Pointed chin Venous thrombosis Deep philtrum Sensorineural hearing impairment Flat occiput Malignant hyperthermia Peripheral hypomyelination Dilated cardiomyopathy Postnatal growth retardation Proteinuria Gangrene Abnormal toenail morphology Leukonychia Feeding difficulties Acute rhabdomyolysis Bulbous nose Upper limb postural tremor Malar prominence Recurrent myoglobinuria Abnormality of the cervical spine Motor polyneuropathy Decreased serum estradiol Motor axonal neuropathy Genu recurvatum Talipes Delayed myelination Agitation Prominent occiput Neonatal asphyxia Cortical gyral simplification Chorioretinal atrophy Abnormal palmar dermatoglyphics Abnormality of the skin Patellar hypoplasia Hypoplasia of teeth Congenital hypothyroidism Heart murmur Abnormal eyelash morphology Abnormality of the outer ear Cellulitis Widely spaced teeth Torticollis Underdeveloped supraorbital ridges Macular degeneration Recurrent otitis media Microdontia Epicanthus inversus Median cleft lip Nevus Facial cleft Cranium bifidum occultum Prominent glabella Caudal appendage Upper eyelid coloboma Wide nasal base Widow's peak Eyelid coloboma Absent eyebrow Hypoplasia of the frontal bone Sparse eyebrow Sparse eyelashes Finger clinodactyly Recurrent pneumonia Preauricular skin tag Hypoplasia of the maxilla Conductive hearing impairment Brachydactyly Lipoma of corpus callosum Pectoral muscle hypoplasia/aplasia Phthisis bulbi Stroke Tetraplegia Muscle cramps Renal cyst Hypopigmentation of the skin Nephropathy Hematuria Tachycardia Abnormality of the cerebral white matter Facial palsy Aplasia/Hypoplasia of the frontal sinuses Abnormality of the nervous system Dementia Elevated serum creatine phosphokinase Depressivity Dilatation Headache Cerebellar atrophy Dysarthria Absent anterior chamber of the eye Iris atrophy Spastic tetraplegia Agenesis of cerebellar vermis Short foot Short palm Wide mouth Hyperkeratosis Cerebellar hypoplasia Hydrocephalus Macrocephaly Broad philtrum Thin ribs Conical tooth Calvarial skull defect Coronal craniosynostosis Encephalocele Fine hair Oligohydramnios Intellectual disability, moderate Alopecia Rhizomelia Hypoplastic iliac wing Retinoblastoma Joint hypermobility Vitreous hemorrhage Glioma Barrel-shaped chest Pathologic fracture Metaphyseal widening Increased susceptibility to fractures Recurrent fractures Inability to walk Osteopenia Decreased skull ossification Ventricular septal defect Hypoplasia of the calcaneus Metaphyseal cupping of proximal phalanges Abnormality of the calcaneus Distal shortening of limbs Metaphyseal cupping of metacarpals Metaphyseal chondrodysplasia 11 pairs of ribs Migraine Hemiparesis Flat face Precocious puberty Nasal obstruction Panhypopituitarism Hyposmia Abnormality of chromosome segregation Duodenal atresia Maternal diabetes Narrow nasal bridge Tented upper lip vermilion Abnormality of the nasopharynx Anosmia EMG: myopathic abnormalities Hemangioma Holoprosencephaly Choanal atresia Hypoplasia of penis Ambiguous genitalia Hypotelorism Single median maxillary incisor Cyclopia Growth hormone deficiency Abnormality of cardiovascular system morphology Severe global developmental delay Abnormality of the pinna Umbilical hernia High forehead Inguinal hernia Pectus excavatum Hypospadias Hernia Congestive heart failure Semilobar holoprosencephaly Short neck High palate Midnasal stenosis Pyriform aperture stenosis Prominent median palatal raphe Single naris Torus palatinus Hypothalamic hamartoma Renal agenesis Premature birth Paraparesis Infantile spasms Anterior segment developmental abnormality Corneal neovascularization Supraventricular tachycardia Ectopia pupillae Increased intraocular pressure Hypoplasia of the iris Posterior embryotoxon Scotoma Hypopigmentation of the fundus Congenital glaucoma Blurred vision Cerebral hemorrhage Hemiplegia Intracranial hemorrhage Dysphonia Leukoencephalopathy Spastic paraparesis Anterior synechiae of the anterior chamber Porencephalic cyst Ectodermal dysplasia Peripapillary atrophy Asthma Iris coloboma Cleft upper lip Coloboma Thalamic hemorrhage Posterior leukoencephalopathy Retinal arterial tortuosity Right hemiplegia Retinal arteriolar tortuosity Migraine with aura Optic neuritis Diffuse leukoencephalopathy Perivascular spaces Polycoria Rieger anomaly Arterial tortuosity Neuritis Retinal hemorrhage Chorioretinal lacunae

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