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.


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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 microcephaly, lymphedema, chorioretinal dysplasia syndrome, mlcrd syndrome, microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant, cdmmr syndrome, lymphedema, microcephaly, chorioretinopathy syndrome, lymphedema and retinal folds with microcephaly and microphthalmos

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: MESH GARD MONDO DOID OMIM

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

High match NORRIE DISEASE; ND

Norrie disease is an X-linked recessive disorder characterized by very early childhood blindness due to degenerative and proliferative changes of the neuroretina. Approximately 50% of patients show some form of progressive mental disorder, often with psychotic features, and about one-third of patients develop sensorineural deafness in the second decade. In addition, some patients have more complex phenotypes, including growth failure and seizures (Berger et al., 1992).Warburg (1966) noted confusion of the terms 'pseudoglioma' and microphthalmia with Norrie disease in the literature. 'Pseudoglioma' is a nonspecific term for any condition resembling retinoblastoma and can have diverse causes, including inflammation, hemorrhage, trauma, neoplasia, or congenital malformation, and often shows unilateral involvement. Thus, 'pseudoglioma' is not an acceptable clinical or pathologic diagnosis (Duke-Elder, 1958).

NORRIE DISEASE; ND Is also known as atrophia bulborum hereditaria, episkopi blindness;atrophia bulborum hereditaria; episkopi blindness; norrie-warburg disease

Related symptoms:

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


SOURCES: MONDO DOID NCIT OMIM UMLS ORPHANET MESH GARD SCTID

More info about NORRIE DISEASE; ND

High match CHROMOSOME 3q29 DELETION SYNDROME

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

CHROMOSOME 3q29 DELETION SYNDROME Is also known as microdeletion 3q29 syndrome;3q subtelomere deletion syndrome; 3qter deletion; del(3)(q29); monosomy 3q29; monosomy 3qter

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Global developmental delay
  • Pica
  • Microcephaly


SOURCES: OMIM MONDO ORPHANET UMLS SCTID MESH GARD DOID

More info about CHROMOSOME 3q29 DELETION SYNDROME

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High match SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME; SFM

Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects (summary by Happle, 1991 and Ernst et al., 2007). The linear sebaceous nevi follow the lines of Blaschko (Hornstein and Knickenberg, 1974; Bouwes Bavinck and van de Kamp, 1985). All cases are sporadic. The syndrome is believed to be caused by an autosomal dominant lethal mutation that survives by somatic mosaicism (Gorlin et al., 2001).

SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME; SFM Is also known as sfm syndrome, linear sebaceous nevus syndrome, sebaceous nevus syndrome, linear, jadassohn nevus phakomatosis;jnp, nevus sebaceus of jadassohn, organoid nevus phakomatosis, epidermal nevus syndrome, formerly;nevus sebaceus of jadassohn; nevus sebaceus syndrome; organoid nevus syndrome; schimmelpenning syndrome; solomon syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM

More info about SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME; SFM

High match ANIRIDIA 1; AN1

Although called aniridia, this disorder is a panocular one taking its name from the noticeable iris hypoplasia seen in most cases. This feature can range from a readily visible, almost complete absence of the iris, through enlargement and irregularity of the pupil mimicking a coloboma, to small slit-like defects in the anterior layer seen only on transillumination with a slit-lamp. The effect on vision is similarly variable (summary by Jordan et al., 1992). Genetic Heterogeneity of AniridiaThere is also evidence that aniridia-2 (AN2) is caused by mutation in a PAX6 cis-regulatory element (SIMO) that resides in an intron of the adjacent ELP4 gene (OMIM ), and that aniridia-3 (AN3) is caused by mutation in the TRIM44 gene (OMIM ) on chromosome 11p13.See also Gillespie syndrome (OMIM ), in which aniridia is associated with cerebellar ataxia and mental retardation.

ANIRIDIA 1; AN1 Is also known as an, aniridia ii, formerly;an2, formerly;

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Pica


SOURCES: ORPHANET MONDO ICD10 OMIM

More info about ANIRIDIA 1; AN1

High match CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB

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.

CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB Is also known as ;del(1)(q21); monosomy 1q21.1

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: GARD SCTID OMIM MONDO DOID UMLS ORPHANET

More info about CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB

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 SCTID

More info about INCONTINENTIA PIGMENTI

High match MARDEN-WALKER SYNDROME; MWKS

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; MWKS Is also known as mws;

Related symptoms:

  • Autosomal recessive inheritance
  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay


SOURCES: GARD OMIM MONDO ORPHANET MESH UMLS SCTID

More info about MARDEN-WALKER SYNDROME; MWKS

High match CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB

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.

CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB 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 NCIT MONDO SCTID MESH GARD

More info about CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB

High match WITTEVEEN-KOLK SYNDROME; WITKOS

15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.

WITTEVEEN-KOLK SYNDROME; WITKOS Is also known as ;del(15)(q24); monosomy 15q24

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: OMIM UMLS ORPHANET SCTID MESH DOID MONDO GARD

More info about WITTEVEEN-KOLK SYNDROME; WITKOS

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
Seizures Common - Between 50% and 80% cases
Microcephaly 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


Pica

Uncommon Symptoms - Between 30% and 50% cases


Muscular hypotonia

Common Symptoms - More than 50% cases


Aggressive behavior

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis

Common Symptoms - More than 50% cases


Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases


Macrotia

Common Symptoms - More than 50% cases


Autosomal dominant inheritance

Uncommon Symptoms - Between 30% and 50% cases


Strabismus

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Cataract Inguinal hernia Short stature Generalized hypotonia Micrognathia High palate Autism Epicanthus Anteverted nares Posteriorly rotated ears Abnormality of the genital system Sporadic Behavioral abnormality Motor delay Micropenis Failure to thrive Ventriculomegaly Intrauterine growth retardation Sleep disturbance Retinal detachment Agenesis of corpus callosum Growth delay Hypertelorism Ptosis Hearing impairment Milia Long philtrum Hypertonia Wide nasal bridge Hypoplasia of the corpus callosum Talipes Depressed nasal bridge Facial asymmetry Sensorineural hearing impairment Downslanted palpebral fissures Dilatation Nystagmus Psychosis Intellectual disability, mild Tapered finger Iris coloboma Neoplasm Blindness Corneal opacity EEG abnormality Deeply set eye Anxiety Camptodactyly of finger Joint hyperflexibility Short nose Smooth philtrum Retrognathia Hypospadias Protruding ear Frontal bossing Autistic behavior Glaucoma Macrocephaly Delayed speech and language development Intellectual disability, severe Cognitive impairment Hernia Talipes equinovarus Pointed chin Joint laxity Bilateral ptosis Arachnodactyly Intellectual disability, moderate

Rare Symptoms - Less than 30% cases


Microretrognathia Clinodactyly of the 5th finger Recurrent infections Pectus carinatum Small for gestational age Clinodactyly Nevus Myopia Broad forehead Depressivity Nasal speech Single transverse palmar crease Long face Abnormality of skin pigmentation Gait ataxia Sandal gap Optic atrophy Patent ductus arteriosus Gastroesophageal reflux Horseshoe kidney Underdeveloped nasal alae Narrow face Congenital diaphragmatic hernia Prominent nasal bridge Pulmonary arterial hypertension Oral cleft Dental crowding Reduced visual acuity Immunodeficiency Abnormality of cardiovascular system morphology Polymicrogyria Abnormality of the pinna Thin upper lip vermilion Renal dysplasia Narrow mouth Polyhydramnios Anophthalmia Short neck Blepharophimosis Feeding difficulties Cleft palate Hydrocephalus Oxycephaly Hydronephrosis Toe syndactyly Hand polydactyly Congestive heart failure Postnatal growth retardation Muscular hypotonia of the trunk Alopecia Irregular hyperpigmentation Obesity Kyphoscoliosis Coloboma Hypopigmentation of the skin Pectus excavatum Dandy-Walker malformation Exotropia Abnormality of dental morphology Phimosis High forehead Pyloric stenosis Asymmetric growth Renal agenesis High, narrow palate Spasticity Renal cyst Kyphosis Hypogonadism Coarctation of aorta Small hand Atrial septal defect Abnormality of immune system physiology Retinal fold Retinal dysplasia Developmental regression Microcornea Upslanted palpebral fissure Hypoplasia of the iris Optic nerve hypoplasia Ectopia lentis Abnormal chorioretinal morphology Diabetes mellitus Aplasia/Hypoplasia of the cerebellum Overgrowth Stereotypy Opacification of the corneal stroma Abnormality of the nervous system Thin vermilion border Abnormality of the eye Cerebral cortical atrophy Wide nose Thick lower lip vermilion Ataxia Visual impairment Coma Malar flattening Hyperreflexia Low-set ears Gait disturbance Hypertension Cerebellar hypoplasia Deep plantar creases Joint stiffness Toe clinodactyly Specific learning disability Anisocoria Ventricular septal defect Bifid uvula Unilateral cryptorchidism Severe short stature Arthrogryposis multiplex congenita High anterior hairline Abnormality of the kidney Insomnia Overlapping fingers Camptodactyly Thick upper lip vermilion Muscular dystrophy Microphallus Abnormality of digit Pulmonary hypoplasia Respiratory tract infection Slender finger Abnormality of nervous system morphology Wide nasal base Thick nasal alae Intestinal atresia Abnormality of the vasculature Thick hair Broad nail Skeletal muscle atrophy Abnormality of the fingernails Keratitis Supernumerary nipple Eosinophilia Hemiplegia/hemiparesis Gastrointestinal atresia Encephalitis Hypopigmented skin patches Spina bifida occulta Abnormality of dental enamel Conspicuously happy disposition Osteolysis Abnormality of the nail Skin ulcer Abnormality of the hair Abnormal blistering of the skin Medial flaring of the eyebrow Blue sclerae Hypodontia Delayed eruption of teeth Telangiectasia of the skin Uveitis Dysplastic corpus callosum Absent hand Flexion contracture Myopathy Flared nostrils Autosomal recessive inheritance Retinal vascular proliferation Short palpebral fissure Ridged fingernail Abnormal hand morphology Retinal hemorrhage Long palm Supernumerary ribs Deviation of finger Cerebral ischemia Verrucae Dystrophic toenail Abnormal toenail morphology Hypoplastic fingernail Hearing abnormality Large fleshy ears Renal hypoplasia Combined immunodeficiency Peripheral demyelination Fine hair Short palm Hemivertebrae Short toe Hypermetropia Highly arched eyebrow Delayed myelination Growth hormone deficiency Open mouth Small nail Feeding difficulties in infancy Flat face Pruritus Wide mouth Polydactyly Sparse and thin eyebrow Short thumb Bilateral single transverse palmar creases Hoarse voice Severe global developmental delay Pes cavus Widely spaced teeth Pulmonary artery atresia Missing ribs Long nose Arnold-Chiari type I malformation Severe intrauterine growth retardation Multiple renal cysts Hydrocele testis Severe combined immunodeficiency Optic nerve coloboma Unilateral renal agenesis Brachydactyly Widely-spaced maxillary central incisors Contiguous gene syndrome Chorioretinitis Absent nasal bridge Language impairment Short 5th toe Narrow palpebral fissure Aortic regurgitation Abnormality of the voice Radial deviation of finger Abnormal form of the vertebral bodies Mask-like facies Myotonia Congenital contracture Dextrocardia Decreased muscle mass Metatarsus adductus Cupped ear Hydroureter Hypoplasia of the brainstem Abnormality of the urinary system Absent septum pellucidum Radioulnar synostosis Syringomyelia Multicystic kidney dysplasia Renal hypoplasia/aplasia Situs inversus totalis Wide anterior fontanel Joint contracture of the hand Abnormality of the face Abnormality of the sternum Submucous cleft hard palate Midface retrusion Abnormality of the thorax Respiratory insufficiency Cafe-au-lait spot Abnormal anatomic location of the heart Fixed facial expression Aplasia/Hypoplasia involving the skeletal musculature Inferior vermis hypoplasia Zollinger-Ellison syndrome Abnormality of the cerebellar vermis Abnormality of the penis Proximal placement of thumb Abnormality of the outer ear Congenital ptosis Colpocephaly Epispadias Limb joint contracture Abnormality of the upper urinary tract Primitive reflex Distal arthrogryposis Restlessness Skin rash Choanal atresia Finger syndactyly Anterior chamber synechiae Pulmonic stenosis Cleft lip Short philtrum Tics Edema Abnormality of the dentition Vascular neoplasm Aplasia/Hypoplasia of the lens Abnormal cochlea morphology Prominent nose Neoplasm of the eye Uterine rupture Abnormality of the diencephalon Corneal degeneration Microphakia Phthisis bulbi Abnormal vitreous humor morphology Erectile abnormalities Remnants of the hyaloid vascular system Everted lower lip vermilion Otitis media Shallow anterior chamber Osteopenia Pachygyria Generalized muscle weakness Cerebral calcification Recurrent fractures Acrania Ophthalmoplegia Ichthyosis Carcinoma Telecanthus Syndactyly Recurrent otitis media Hepatomegaly Six lumbar vertebrae Subvalvular aortic stenosis Broad face Bipolar affective disorder Shallow orbits Aspiration Anorexia Aortic valve stenosis Poliosis Venous insufficiency Plagiocephaly Deep philtrum Retinal thinning Prominent nasal tip Congenital microcephaly Chorioretinal atrophy Agitation Cortical gyral simplification Flat occiput Retinal atrophy Patent foramen ovale Lymphedema Falciform retinal fold Sloping forehead Bilateral sensorineural hearing impairment Broad nasal tip Full cheeks Thick vermilion border Retinal dystrophy Prominent forehead Retinopathy Mandibular prognathia Chorioretinal dysplasia Chorioretinal lacunae Retinoblastoma Hallucinations Abnormal pupil morphology Abnormality of the helix Abnormality of the retinal vasculature Narrow nasal bridge Sclerocornea Severe visual impairment Glioma Self-injurious behavior Cachexia Intellectual disability, progressive Muscle weakness Intellectual disability, profound Hypotelorism Migraine Delayed puberty Irritability Clonus Dementia Myoclonus X-linked recessive inheritance Hemangioma Aplasia/Hypoplasia of the corpus callosum Umbilical hernia Decreased light- and dark-adapted electroretinogram amplitude Vascular tortuosity Central adrenal insufficiency Macular hypoplasia Retinal vascular tortuosity Lumbar kyphosis Central hypothyroidism Lower limb hypertonia Peters anomaly Hyposmia Hypoplasia of the olfactory bulb Ectopia pupillae Action tremor Limb hypertonia Hand tremor Hypoplasia of the fovea Aniridia Hypopituitarism Adrenal insufficiency Nephroblastoma Ocular pain Aphakia Albinism High hypermetropia Hyperhidrosis Hyperkeratosis Erythema Gastric ulcer Ankyloglossia Interrupted aortic arch Broad hallux phalanx Truncus arteriosus Foot polydactyly Transposition of the great arteries Aplasia/Hypoplasia of the macula Broad hallux Schizophrenia Broad thumb Vesicoureteral reflux Short foot Joint hypermobility Bulbous nose Abnormal cardiac septum morphology Hypoplasia of the antihelix Anosmia Narrow palate Abnormality of vision Megalencephaly Hemihypertrophy Hyperphosphaturia Cavernous hemangioma Osteoma Abnormality of finger Gangrene Dilatation of the cerebral artery Genu recurvatum Xanthelasma Neurofibromas Hypophosphatemic rickets Osteomalacia Biparietal narrowing Prominent occiput Basal cell carcinoma Rickets Vertebral segmentation defect Precocious puberty Melanocytic nevus Reduced tendon reflexes Porencephalic cyst Adenoma sebaceum Amblyopia Pain Recurrent urinary tract infections Falls Congenital cataract Anal atresia Rigidity Hypothyroidism Visual loss Renal insufficiency Tremor Nevus sebaceus Cranial asymmetry Linear nevus sebaceous Odontogenic neoplasm Nevus sebaceous Odontoma Abnormality of toe Epidermal nevus Hemimegalencephaly Somatic mosaicism Abnormality of dental color Abnormality of the proximal phalanx of the thumb



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Other signs and symptoms that you may find interesting

Frontal bossing and Peripheral axonal neuropathy, related diseases and genetic alterations