Microphthalmia, and Attention deficit hyperactivity disorder

Diseases related with Microphthalmia and Attention deficit hyperactivity disorder

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


Top matches:

High match MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE; MCPH20


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE; MCPH20

High match NORRIE DISEASE


Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.

NORRIE DISEASE Is also known as episkopi blindness|norrie-warburg disease|atrophia bulborum hereditaria

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NORRIE DISEASE

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

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Other less relevant matches:

High match 3Q29 MICRODELETION SYNDROME


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

High match 1Q21.1 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 LINEAR NEVUS SEBACEUS SYNDROME


Linear nevus sebaceous syndrome (LNSS) is characterized by the association of a large sebaceous nevus, usually appearing on the face or on the scalp, with a broad spectrum of abnormalities that may affect every organ system, including the central nervous system (brain neoplasms, hemimegalencephaly and lateral ventricle enlargement).

LINEAR NEVUS SEBACEUS SYNDROME Is also known as linear sebaceous nevus syndrome|jnp|sfm syndrome|solomon syndrome|epidermal nevus syndrome, formerly|sebaceous nevus syndrome, linear|nevus sebaceus of jadassohn|jadassohn nevus phakomatosis|nevus sebaceus syndrome|schimmelpenning syndrome|organoid nevus

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about LINEAR NEVUS SEBACEUS SYNDROME

High match INCONTINENTIA PIGMENTI


Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).

INCONTINENTIA PIGMENTI Is also known as bloch-siemens syndrome|bloch-sulzberger syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about INCONTINENTIA PIGMENTI

High match MARDEN-WALKER SYNDROME


Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.

MARDEN-WALKER SYNDROME Is also known as mws

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MARDEN-WALKER SYNDROME

High match PROXIMAL 16P11.2 MICRODELETION SYNDROME


The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.

PROXIMAL 16P11.2 MICRODELETION SYNDROME Is also known as proximal del(16)(p11.2)|proximal monosomy 16p11.2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PROXIMAL 16P11.2 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Microphthalmia and Attention deficit hyperactivity disorder

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Microcephaly Common - Between 50% and 80% cases
Muscular hypotonia Common - Between 50% and 80% cases
Hyperactivity Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Microphthalmia and Attention deficit hyperactivity disorder. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Strabismus

Common Symptoms - More than 50% cases


Cataract

Uncommon Symptoms - Between 30% and 50% cases


Aggressive behavior Abnormal facial shape Macrotia Scoliosis Cryptorchidism Generalized hypotonia Short stature Blindness Behavioral abnormality Growth delay Autism High palate Micrognathia Failure to thrive Inguinal hernia Agenesis of corpus callosum Corneal opacity Anteverted nares Epicanthus Retinal detachment Ptosis Intellectual disability, moderate Cleft palate Posteriorly rotated ears Anxiety Intrauterine growth retardation Deeply set eye EEG abnormality Talipes equinovarus Sleep disturbance Long philtrum Bilateral ptosis Anophthalmia Glaucoma Low-set ears Macrocephaly Cognitive impairment Sensorineural hearing impairment Coloboma Talipes Dandy-Walker malformation Hearing impairment Ventriculomegaly Nystagmus Visual loss Neoplasm Micropenis Optic nerve hypoplasia Hypoplasia of the corpus callosum Psychosis Spasticity Hypertelorism Intellectual disability, severe Hypertonia Wide nasal bridge Frontal bossing

Rare Symptoms - Less than 30% cases


Delayed speech and language development Ataxia Motor delay Feeding difficulties Hypertension Short neck Microcornea Abnormal toenail morphology Gangrene Abnormality of the pinna Pointed chin Kyphoscoliosis Skin ulcer Blepharophimosis Amblyopia Renal agenesis Overgrowth Specific learning disability Pyloric stenosis Rigidity Thin upper lip vermilion Reduced visual acuity Gait disturbance Dental crowding Short nose Smooth philtrum Iris coloboma Coarctation of aorta Camptodactyly of finger Hand polydactyly Congestive heart failure Kyphosis Arachnodactyly Hydronephrosis Asymmetric growth Hypopigmentation of the skin Renal dysplasia Exotropia Irregular hyperpigmentation Abnormality of dental morphology Dilatation Autistic behavior Hydrocephalus Hernia Joint laxity Hypospadias Depressivity Pectus excavatum Patent ductus arteriosus Clinodactyly of the 5th finger Gait ataxia Gastroesophageal reflux Respiratory tract infection Horseshoe kidney Pectus carinatum Facial asymmetry Joint hyperflexibility Oral cleft Abnormality of skin pigmentation Tapered finger Pulmonary arterial hypertension Severe short stature Alopecia Intellectual disability, mild Renal hypoplasia Cerebral cortical atrophy Diabetes mellitus Visual impairment Aplasia/Hypoplasia of the cerebellum Abnormality of immune system physiology Hypoplasia of the iris Malar flattening Vitreoretinopathy Abnormality of the nervous system Retinal dysplasia Optic atrophy Cortical gyral simplification Abnormal chorioretinal morphology Retinal fold Hyperreflexia Exudative vitreoretinopathy Opacification of the corneal stroma Ectopia lentis Abnormality of the eye Cerebellar hypoplasia Depressed nasal bridge Atrial septal defect Myopia Protruding ear Stereotypy Retinopathy Downslanted palpebral fissures Hyperhidrosis Nevus sebaceus Linear nevus sebaceous Odontoma Odontogenic neoplasm Abnormality of the fingernails Spina bifida occulta Aortic regurgitation Abnormality of toe Osteolysis Umbilical hernia Hyperkeratosis Unilateral renal agenesis Abnormality of dental enamel Abnormality of the nail Erythema Abnormality of the hair Long nose Combined immunodeficiency Skin rash Blue sclerae Finger syndactyly Delayed eruption of teeth Hypodontia Language impairment Abnormal blistering of the skin Nevus sebaceous Abnormality of dental color Epidermal nevus Pachygyria Pulmonary artery atresia Melanocytic nevus Rickets Precocious puberty Abnormality of vision Hemangioma Aplasia/Hypoplasia of the corpus callosum Reduced tendon reflexes Plagiocephaly Cerebral calcification Vertebral segmentation defect Nevus Generalized muscle weakness Recurrent fractures Ichthyosis Chorioretinitis Ophthalmoplegia Telecanthus Carcinoma Widely-spaced maxillary central incisors Prominent occiput Basal cell carcinoma Syringomyelia Missing ribs Hemimegalencephaly Cranial asymmetry Eosinophilia Severe combined immunodeficiency Adenoma sebaceum Arnold-Chiari type I malformation Severe intrauterine growth retardation Cavernous hemangioma Multiple renal cysts Porencephalic cyst Neurofibromas Hypophosphatemic rickets Hydrocele testis Hyperphosphaturia Hemihypertrophy Abnormality of finger Genu recurvatum Dilatation of the cerebral artery Optic nerve coloboma Osteomalacia Biparietal narrowing Hypopigmented skin patches Uveitis Encephalitis Postnatal growth retardation Arthrogryposis multiplex congenita Absent septum pellucidum Muscular dystrophy Submucous cleft hard palate Restlessness Distal arthrogryposis Colpocephaly Abnormality of the upper urinary tract Primitive reflex High, narrow palate Camptodactyly Abnormality of the kidney Epispadias Retrognathia Polyhydramnios Narrow mouth Areflexia Abnormality of cardiovascular system morphology Myopathy Pulmonary hypoplasia Bifid uvula Congenital ptosis Joint contracture of the hand Hypoplasia of the brainstem Myotonia Congenital contracture Radioulnar synostosis Metatarsus adductus Abnormality of the urinary system Renal hypoplasia/aplasia Multicystic kidney dysplasia Situs inversus totalis Abnormality of the sternum Wide anterior fontanel Dextrocardia Abnormality of the face Abnormal form of the vertebral bodies Short palpebral fissure Hydroureter Decreased muscle mass Interphalangeal joint contracture of finger Peripheral demyelination Limb joint contracture Ventricular septal defect Keratitis Hearing abnormality Broad forehead Flat face Cerebral ischemia Small hand Verrucae Renal cyst Hypoplastic fingernail Dystrophic toenail Underdeveloped nasal alae Polydactyly Congenital diaphragmatic hernia Short toe Mask-like facies Telangiectasia of the skin Hemivertebrae Supernumerary nipple Hemiplegia/hemiparesis Narrow palpebral fissure Microretrognathia Wide mouth Obesity Skeletal muscle atrophy Abnormality of the penis Abnormality of the cerebellar vermis Flexion contracture Retinal vascular proliferation Broad nail Abnormal hand morphology Ridged fingernail Absent hand Retinal hemorrhage Zollinger-Ellison syndrome Deviation of finger Inferior vermis hypoplasia Aplasia/Hypoplasia involving the skeletal musculature Fixed facial expression Abnormal anatomic location of the heart Respiratory insufficiency Supernumerary ribs Immunodeficiency Recurrent infections Midface retrusion Joint stiffness Bulbous nose Osteopenia Prominent forehead Wide nose Dry skin Astigmatism Hypermetropia Leukemia Neonatal hypotonia Mandibular prognathia Upslanted palpebral fissure Edema Thick vermilion border Vascular neoplasm Anterior chamber synechiae Neoplasm of the eye Uterine rupture Aplasia/Hypoplasia of the lens Abnormal cochlea morphology Retinopathy of prematurity Abnormality of the diencephalon Corneal degeneration Retinal dystrophy Broad nasal tip Posterior synechiae of the anterior chamber Muscle stiffness Cellulitis Chorioretinal atrophy Agitation Flat occiput Scaling skin Patent foramen ovale Deep philtrum Venous thrombosis Lymphedema Full cheeks Abnormality of retinal pigmentation Thickened skin Subcutaneous nodule Thick lower lip vermilion Status epilepticus Bilateral sensorineural hearing impairment Sloping forehead Pigmentary retinopathy Lymphoma Abnormal vitreous humor morphology Phthisis bulbi Abnormal eyelash morphology Muscle weakness Thin vermilion border Retinal degeneration Confusion Delayed puberty Irritability Developmental regression Myoclonus Dementia Small cerebral cortex Hypotelorism Hyperechogenic kidneys Delayed gross motor development Spastic tetraparesis Tetraparesis Poor speech Abnormality of the foot Severe global developmental delay Neurological speech impairment Absent speech Migraine Intellectual disability, profound Erectile abnormalities Abnormality of the helix Leukocoria Shallow anterior chamber Remnants of the hyaloid vascular system Retinoblastoma Venous insufficiency Anterior synechiae of the anterior chamber Abnormal pupil morphology Abnormality of the retinal vasculature Sclerocornea Hallucinations Abnormality of the vasculature Severe vision loss Narrow nasal bridge Abnormal retinal morphology Self-injurious behavior Cachexia Progressive hearing impairment Intellectual disability, progressive Clonus Underdeveloped supraorbital ridges Leukonychia Syndactyly Choanal atresia Hypopituitarism Adrenal insufficiency Albinism Nephroblastoma Anosmia Narrow palate Type I diabetes mellitus Recurrent urinary tract infections Polymicrogyria Limb hypertonia Falls Congenital cataract Muscular hypotonia of the trunk High forehead Hypothyroidism Hypogonadism Tremor Pain Ankyloglossia Aniridia Hand tremor Broad hallux phalanx Macular hypoplasia Hepatomegaly Increased proinsulin:insulin ratio Hypoplasia of the antihelix Aplasia/Hypoplasia of the macula Lumbar kyphosis Aphakia Central adrenal insufficiency Vascular tortuosity Retinal vascular tortuosity Hypoplasia of the fovea Central hypothyroidism Lower limb hypertonia Abnormal glucose tolerance Ocular pain Decreased light- and dark-adapted electroretinogram amplitude Peters anomaly Hyposmia Ectopia pupillae Action tremor Interrupted aortic arch Truncus arteriosus Chylothorax Abnormality of the dentition Everted lower lip vermilion Long face Pulmonic stenosis Small for gestational age Prominent nasal bridge Short philtrum Cleft lip Clinodactyly Chorioretinal lacunae Prominent nose Melanonychia Myopic astigmatism Chorioretinal dysplasia Retinal thinning Panniculitis Erysipelas Abnormal nasolacrimal system morphology Prominent nasal tip Congenital microcephaly Single transverse palmar crease Anorexia Foot polydactyly Toe syndactyly Transposition of the great arteries High hypermetropia Broad hallux Schizophrenia Broad thumb Vesicoureteral reflux Short foot Joint hypermobility Abnormal cardiac septum morphology Aortic valve stenosis Six lumbar vertebrae Subvalvular aortic stenosis Broad face Shallow orbits Bipolar affective disorder Nasal speech Sandal gap Narrow face Aspiration Absent nasal bridge



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