Microphthalmia, and Intellectual disability, moderate

Diseases related with Microphthalmia and Intellectual disability, moderate

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

Top matches:

Nance-Horan syndrome (NHS) is characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism.

NANCE-HORAN SYNDROME Is also known as cataract-dental syndrome|mesiodens-cataract syndrome|cataract, x-linked, with hutchinsonian teeth

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Nystagmus
  • Strabismus
  • Cataract


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NANCE-HORAN 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

Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.

COLOBOMATOUS MICROPHTHALMIA-RHIZOMELIC DYSPLASIA SYNDROME Is also known as microphthalmia or coloboma with or without rhizomelic skeletal dysplasia|microphthalmia, syndromic 14|microphthalmia-coloboma-rhizomelic skeletal dysplasia|mcops14

Related symptoms:

  • Intellectual disability
  • Nystagmus
  • Strabismus
  • Abnormal facial shape
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about COLOBOMATOUS MICROPHTHALMIA-RHIZOMELIC DYSPLASIA SYNDROME

Other less relevant matches:

3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.

3Q29 MICRODELETION SYNDROME Is also known as del(3)(q29)|microdeletion 3q29 syndrome|3q subtelomere deletion syndrome|monosomy 3q29|monosomy 3qter|3qter deletion

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about 3Q29 MICRODELETION SYNDROME

1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.

1Q21.1 MICRODELETION SYNDROME Is also known as monosomy 1q21.1|del(1)(q21)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1Q21.1 MICRODELETION SYNDROME

High 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

High match TEMTAMY SYNDROME

Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.

TEMTAMY SYNDROME Is also known as temtamy-shalash syndrome|craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome|mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TEMTAMY SYNDROME

X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.

X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA Is also known as x-linked chondrodysplasia punctata type 2|cpxd|cdpxd|conradi-hunermann-happle syndrome|happle syndrome|conradi-hunermann syndrome|cdpx2|chondrodystrophia calcificans congenita|conradi-h√únermann-happle syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA

Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly.

MICROPHTHALMIA WITH LIMB ANOMALIES Is also known as waardenburg anophthalmia syndrome|waardenburg syndrome, type ivc|waardenburg syndrome with hirschsprung disease, type 4c|oas|anophthalmia-syndactyly syndrome|ophthalmoacromelic syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Failure to thrive
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROPHTHALMIA WITH LIMB ANOMALIES

The term frontonasal dysplasia was coined by Sedano et al. (1970) to describe a constellation of findings limited to the face and head. The disorder is defined as 2 or more of the following: (1) true ocular hypertelorism; (2) broadening of the nasal root; (3) median facial cleft affecting the nose and/or upper lip and palate; (4) unilateral or bilateral clefting of the alae nasi; (5) lack of formation of the nasal tip; (6) anterior cranium bifidum occultum (see {168500}); and (7) a V-shaped or widow's peak frontal hairline (Sedano and Gorlin, 1988). Most reported cases are sporadic, but a few familial cases have been reported.Twigg et al. (2009) characterized frontonasal malformation (FNM) as a 'very heterogeneous group of disorders' and summarized clinical features.Also see acromelic frontonasal dysplasia (AFND ), frontofacionasal dysplasia (FFND ), oculoauriculofrontonasal syndrome (OAFNS ), the acrofrontofacionasal dysostosis syndromes ({201180}, {239710}), and craniofrontonasal syndrome (OMIM ). Genetic Heterogeneity of Frontonasal DysplasiaFrontonasal dysplasia-2 (FND2 ) is caused by mutation in the ALX4 gene (OMIM ) on chromosome 11p11. Frontonasal dysplasia-3 (FND3 ) is caused by mutation in the ALX1 gene (OMIM ) on chromosome 12q21.

FRONTONASAL DYSPLASIA 1; FND1 Is also known as frontonasal malformation|fnm|frontonasal dysplasia|median facial cleft syndrome|frontorhiny|fnd

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about FRONTONASAL DYSPLASIA 1; FND1

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

Symptoms // Phenotype % cases
Cataract Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Frontal bossing Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases

Strabismus Ptosis Abnormal facial shape Epicanthus Depressed nasal bridge Short stature Global developmental delay Clinodactyly of the 5th finger Talipes equinovarus Agenesis of corpus callosum Hearing impairment Microcornea Hypogonadism Long philtrum Sensorineural hearing impairment Abnormality of the dentition Hypertelorism Failure to thrive Low-set ears Joint hyperflexibility High palate Microcephaly Autism Coloboma Scoliosis Alopecia Cleft palate Intrauterine growth retardation Generalized hypotonia Anteverted nares Intellectual disability, mild Downslanted palpebral fissures Gait ataxia Depressivity Attention deficit hyperactivity disorder Anophthalmia Hydrocephalus Telecanthus Patent ductus arteriosus Hyperactivity Dental crowding Micrognathia Hydronephrosis Macrotia Retinal detachment Prominent nose Abnormality of the skeletal system Optic atrophy Dandy-Walker malformation Long face Glaucoma Behavioral abnormality

Rare Symptoms - Less than 30% cases

Clinodactyly Anxiety Cleft lip Hypoplasia of the maxilla Joint laxity Aggressive behavior Hip dislocation Abnormal heart morphology Scleral staphyloma Talipes Esotropia Dilatation Inguinal hernia Polydactyly Postaxial hand polydactyly Intellectual disability, severe Facial asymmetry Hypopigmentation of the skin Iris coloboma Broad thumb Foot polydactyly Hypoplasia of the corpus callosum Kyphosis Micropenis Hypothyroidism Wide nasal bridge Toe syndactyly Anosmia Brachydactyly Seizures Sandal gap Horseshoe kidney Atrial septal defect Oral cleft Postaxial polydactyly Adrenal insufficiency Ataxia Narrow face Bifid nose Visual loss Prominent nasal bridge Congenital cataract Blindness Agenesis of cerebellar vermis Broad philtrum Conical tooth Calvarial skull defect Hypospadias Coronal craniosynostosis Scrotal hypoplasia Encephalocele Fine hair Oligohydramnios Underdeveloped nasal alae Brachycephaly Upslanted palpebral fissure Autistic behavior Flexion contracture Prominent forehead Cognitive impairment Reduced visual acuity Rhizomelia Long eyelashes Chorioretinal coloboma Visual impairment Pes planus Ectopia pupillae Skeletal dysplasia Aplasia/Hypoplasia of the skin Abnormal form of the vertebral bodies Bowing of the long bones Thin vermilion border Aganglionic megacolon Cleft upper lip Bilateral single transverse palmar creases Congenital ichthyosiform erythroderma Epiphyseal stippling Patellar dislocation Tracheal stenosis Concave nasal ridge Abnormality of hair texture Finger syndactyly Tarsal stippling Elevated 8-dehydrocholesterol Punctate vertebral calcifications Tracheal calcification Hyperkeratosis with erythema Vertebral wedging Erythroderma Stippled calcification in carpal bones Blepharophimosis Patchy alopecia Hemiatrophy Low-set, posteriorly rotated ears Scarring alopecia of scalp Butterfly vertebrae Elevated 8(9)-cholestenol Dry hair Bilateral talipes equinovarus Joint dislocation Abnormality of the thorax Short neck Kyphoscoliosis Polyhydramnios Hyperkeratosis Midface retrusion Malar flattening Edema Posterior staphyloma Postnatal growth retardation Short 2nd toe Mandibular prognathia Lop ear Lens luxation Short upper lip Colpocephaly Abnormality of the nervous system Abnormality of the pinna Scaling skin Sparse and thin eyebrow Coarse hair Abnormality of pelvic girdle bone morphology Sparse eyelashes Abnormality of the fingernails Abnormality of the metacarpal bones Hemivertebrae Abnormal vertebral morphology Erythema Abnormality of epiphysis morphology Limb undergrowth Hip dysplasia Flat face Ichthyosis Sparse hair Hypopigmented skin patches Heterochromia iridis Short long bone Preaxial polydactyly Facial cleft Occipital encephalocele Partial agenesis of the corpus callosum Multiple lipomas Diabetes insipidus Radial deviation of finger Easy fatigability Lipoma Joint contracture of the hand Preauricular skin tag Lymphedema Abnormality of the face Heterotopia Abnormality of the genital system Tetralogy of Fallot Median cleft lip Meningocele Growth hormone deficiency Hypoplastic frontal sinuses Midline facial cleft Pectoral muscle hypoplasia/aplasia Frontal cutaneous lipoma Lipoma of corpus callosum Cranium bifidum occultum Morning glory anomaly Widely-spaced maxillary central incisors Absent tibia Short columella Median cleft palate Parietal foramina Broad columella Alopecia totalis Bifid nasal tip Preaxial foot polydactyly Widow's peak Decreased testicular size Broad nasal tip Elbow dislocation Blue irides White forelock Abnormality of the thumb Abnormality of the upper limb White hair Abnormality of the lower limb Large earlobe Hypoplasia of teeth Short tibia Intestinal pseudo-obstruction Abnormal eyebrow morphology Postaxial foot polydactyly Synostosis of carpal bones Fibular hypoplasia Tarsal synostosis Tibial bowing Premature graying of hair Venous insufficiency Hand oligodactyly Postural instability True anophthalmia Wide nose Hypotrichosis Craniosynostosis Camptodactyly Conductive hearing impairment Abnormality of cardiovascular system morphology Motor delay Camptodactyly of 2nd-5th fingers Arrhinencephaly Lacrimal gland hypoplasia Hypoplasia of the premaxilla Synostosis of joints White eyebrow Foot oligodactyly White eyelashes Macrodontia Profound global developmental delay Intellectual disability, profound Neurogenic bladder Sleep disturbance Broad hallux Hand polydactyly Schizophrenia Mesiodens Coarctation of aorta Vesicoureteral reflux Short foot Transposition of the great arteries Posterior Y-sutural cataract Bulbous nose Joint hypermobility Supernumerary maxillary incisor Abnormal cardiac septum morphology Screwdriver-shaped incisors Deeply set eye High hypermetropia Sutural cataract Six lumbar vertebrae Hypertonia Rigidity High forehead Pendular nystagmus Anodontia Diabetes mellitus Diastema Broad finger Truncus arteriosus Tremor Pain Neoplasm Multiple impacted teeth Ankyloglossia Interrupted aortic arch Broad hallux phalanx Muscular hypotonia Subvalvular aortic stenosis Smooth philtrum Precocious puberty Pes cavus Thin upper lip vermilion Gastroesophageal reflux Posteriorly rotated ears Knee flexion contracture Deep philtrum Pectus excavatum Short philtrum Sclerocornea Hernia Short nose Gait disturbance Hypertension Delayed speech and language development Periorbital fullness Respiratory tract infection Pectus carinatum Broad face Stereotypy Shallow orbits Bipolar affective disorder Nasal speech Aspiration Aortic valve stenosis Anorexia Pulmonary arterial hypertension Small for gestational age Psychosis Single transverse palmar crease Tapered finger Everted lower lip vermilion Abnormality of skin pigmentation Syndactyly Pulmonic stenosis Muscular hypotonia of the trunk Arachnodactyly Congenital nystagmus Short phalanx of finger Corneal opacity Mental deterioration Coarse facial features Absent speech Congestive heart failure Short metacarpal Ventriculomegaly Highly arched eyebrow Ventricular septal defect Widely spaced teeth Myopia Hypophosphatemia Spasticity Increased proinsulin:insulin ratio Hypoplasia of the antihelix Dolichocephaly Protruding ear Lumbar kyphosis Abnormal palate morphology Bowing of the legs Unilateral renal agenesis Aortic aneurysm Relative macrocephaly Genu varum Aplasia/Hypoplasia of the corpus callosum Aortic regurgitation Renal agenesis Short chin Short toe Thick lower lip vermilion Monocular strabismus Bilateral sensorineural hearing impairment Progressive visual loss Convex nasal ridge Aplasia/Hypoplasia of the macula Aphakia Falls Type I diabetes mellitus Ectopia lentis Bilateral ptosis Narrow nasal bridge Optic nerve hypoplasia Opacification of the corneal stroma Narrow palate Exotropia Albinism Amblyopia Renal dysplasia Recurrent urinary tract infections Choanal atresia Increased number of teeth Severe vision loss Polymicrogyria Nephroblastoma Blurred vision Central adrenal insufficiency Decreased light- and dark-adapted electroretinogram amplitude Vascular tortuosity Macular hypoplasia Retinal vascular tortuosity Central hypothyroidism Lower limb hypertonia Abnormal glucose tolerance Ocular pain Peters anomaly Hypopituitarism Hyposmia Action tremor Hypoplasia of the fovea Hand tremor Hypoplasia of the iris Limb hypertonia Aniridia Anterior basal encephalocele


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