Microphthalmia, and Falls

Diseases related with Microphthalmia and Falls

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


Top matches:

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 ROBERTS SYNDROME


Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS.

ROBERTS SYNDROME Is also known as pseudothalidomide syndrome|roberts-sc phocomelia syndrome|sc pseudothalidomide syndrome|sc phocomelia

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ROBERTS SYNDROME

High match MOWAT-WILSON SYNDROME; MOWS


Mowat-Wilson syndrome is an autosomal dominant complex developmental disorder; individuals with functional null mutations present with mental retardation, delayed motor development, epilepsy, and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Mowat-Wilson syndrome has many clinical features in common with Goldberg-Shprintzen syndrome (OMIM ) but the 2 disorders are genetically distinct (Mowat et al., 2003). Goldberg-Shprintzen syndrome is caused by mutation in the KIAA1279 gene (OMIM ) located on 10q.

MOWAT-WILSON SYNDROME; MOWS Is also known as microcephaly, mental retardation, and distinct facial features, with or without hirschsprung disease|hirschsprung disease-mental retardation syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOWAT-WILSON SYNDROME; MOWS

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Other less relevant matches:

High match MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME


MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME Is also known as mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME

Medium match OCULAR ALBINISM WITH CONGENITAL SENSORINEURAL DEAFNESS


Ocular albinism with congenital sensorineural deafness is a rare, genetic, oculocutaneous disorder characterized by profound, congenital, sensorineural hearing loss in association with moderate to severe hypopigmentation of the ocular fundus, blue irides or partial heterochromia, and patchy or generalized hypopigmentation of the skin. White forelock, premature graying of hair, freckles, lentigines and café-au-lait macules are frequently associated. Other highly variable features include reduced visual acuity, strabismus, and an iris transillumination defect.

OCULAR ALBINISM WITH CONGENITAL SENSORINEURAL DEAFNESS Is also known as waardenburg syndrome type 2 with ocular albinism|waardenburg syndrome, type 2, with ocular albinism, autosomal recessive|ws2-oa

Related symptoms:

  • Hearing impairment
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment
  • Visual impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULAR ALBINISM WITH CONGENITAL SENSORINEURAL DEAFNESS

Medium match X-LINKED RECESSIVE OCULAR ALBINISM


X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males.

X-LINKED RECESSIVE OCULAR ALBINISM Is also known as ocular albinism type 1|ocular albinism, nettleship-falls type|nettleship-falls type ocular albinism|oa1|xloa

Related symptoms:

  • Intellectual disability
  • Short stature
  • Nystagmus
  • Strabismus
  • Visual impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about X-LINKED RECESSIVE OCULAR ALBINISM

Medium match ÅLAND ISLANDS EYE DISEASE


Aland Island Eye Disease (AIED) is an X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia.

ÅLAND ISLANDS EYE DISEASE Is also known as aied|forsius-eriksson type ocular albinism|forsius-eriksson syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Nystagmus
  • Myopia
  • Blindness


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ÅLAND ISLANDS EYE DISEASE

Medium match CHÉDIAK-HIGASHI SYNDROME


Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described.

CHÉDIAK-HIGASHI SYNDROME Is also known as chÉdiak-higashi-steinbrink syndrome|chÉdiak-higashi disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHÉDIAK-HIGASHI SYNDROME

Low match CARDIOFACIOCUTANEOUS SYNDROME


Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10; MDDGA10


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. The brain shows cobblestone lissencephaly, a cortical malformation. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (summary by Vuillaumier-Barrot et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10; MDDGA10 Is also known as walker-warburg syndrome or muscle-eye-brain disease, tmem5-related

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Cataract
  • Macrocephaly
  • Ventriculomegaly


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10; MDDGA10

Top 5 symptoms//phenotypes associated to Microphthalmia and Falls

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Nystagmus Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Hypopigmentation of the skin Generalized hypotonia Albinism High palate Reduced visual acuity Ataxia Growth delay Blindness Seizures Hypertelorism Cryptorchidism Cataract Giant melanosomes in melanocytes Hypoplasia of the fovea Microcephaly Neoplasm Hypermetropia Ocular albinism Photophobia Visual impairment Micrognathia Ventriculomegaly Atrial septal defect Downslanted palpebral fissures Amblyopia Abnormality of cardiovascular system morphology Depressivity Pectus excavatum Macular hypoplasia Hypopigmentation of the fundus Thrombocytopenia Tremor Abnormality of the eye Macrotia High forehead Myopia Ptosis Astigmatism Posteriorly rotated ears Pain

Rare Symptoms - Less than 30% cases


Hemangioma Abnormal heart morphology Constipation Cerebral cortical atrophy Pectus carinatum Mandibular prognathia Hydronephrosis Underdeveloped supraorbital ridges Anxiety Telecanthus Abnormality of the kidney Hemiparesis Short nose External ear malformation Large for gestational age Low hanging columella Epicanthus Behavioral abnormality Vomiting Intellectual disability, severe Fair hair Subvalvular aortic stenosis Failure to thrive Muscular hypotonia Ventricular septal defect Frontal bossing Motor delay Fever Abnormal cardiac septum morphology Scoliosis Neurological speech impairment Abnormality of skin pigmentation Melanocytic nevus Abnormality of vision Freckling Multiple lentigines Optic nerve dysplasia Hyperpigmentation of the skin Nyctalopia Ichthyosis Congenital nystagmus Long face Iris hypopigmentation Muscular dystrophy Abnormal bleeding Bruising susceptibility Peripheral axonal neuropathy Leukemia Hepatomegaly Edema Generalized hyperpigmentation Difficulty walking Abnormality of the cerebral white matter Abnormality of the genitourinary system Pulmonic stenosis Abdominal distention Brain atrophy Vesicoureteral reflux Coarctation of aorta Fine hair Open mouth Aplasia/Hypoplasia of the corpus callosum Poor suck Macrocephaly Sparse eyebrow Submucous cleft hard palate Abnormality of the gastrointestinal tract Premature birth Delayed speech and language development Hydrocephalus Hyporeflexia Delayed skeletal maturation Myocardial infarction Splenomegaly Cleft upper lip Clinodactyly of the 5th finger Postnatal growth retardation Hypogonadism Polyhydramnios Glaucoma Gait ataxia Rigidity Coloboma Proptosis Congenital cataract Agenesis of corpus callosum Dilatation Malar flattening Intellectual disability, mild Congestive heart failure Short neck Narrow palate Opacification of the corneal stroma Optic nerve hypoplasia Bilateral ptosis Sparse hair Cleft palate Kyphosis Hypertonia Depressed nasal bridge Anteverted nares Finger syndactyly Hypoplasia of the corpus callosum Abnormal facial shape Hypotrichosis Abnormality of the auditory canal Cutaneous T-cell lymphoma Dysarthria Low-set, posteriorly rotated ears Inappropriate crying Feeding difficulties Low-set ears Generalized hypopigmentation of hair Recurrent systemic pyogenic infections Abnormality of multiple cell lineages in the bone marrow Umbilical hernia Optic atrophy Abnormal leukocyte morphology Hypofibrinogenemia Oculogyric crisis Recurrent bacterial skin infections Partial albinism Hypersplenism Progressive peripheral neuropathy Multiple palmar creases Hemophagocytosis Spinocerebellar tract degeneration Recurrent cutaneous abscess formation Morphological abnormality of the gastrointestinal tract Coarse facial features Inguinal hernia Osteopenia Gastroesophageal reflux Autism EEG abnormality Hyperkeratosis Aggressive behavior Hyperhidrosis Prominent forehead Alopecia Encephalopathy Dysphagia Hernia Cerebral atrophy Long philtrum Abnormality of the dentition Puberty and gonadal disorders Cardiomyopathy Areflexia Generalized hypopigmentation Hypertrophic cardiomyopathy White hair Gingival bleeding Periodontitis Epistaxis Congenital muscular dystrophy Occipital encephalocele Paraplegia Gonadal dysgenesis Paresthesia Facial cleft Lymphadenopathy Atrophy/Degeneration affecting the brainstem Hypertriglyceridemia Cutaneous photosensitivity Retinal dysplasia Lissencephaly Pancytopenia Sensory neuropathy Abnormality of extrapyramidal motor function Bradykinesia Peripheral demyelination Gastrointestinal hemorrhage Lymphoma Neurodegeneration Neutropenia Cerebellar dysplasia Abnormality of movement Spastic paraplegia Gingivitis Leukopenia Parkinsonism Hypopigmentation of hair Eyelid fasciculation Resting tremor Sensory axonal neuropathy Cerebral hemorrhage Multiple plantar creases Decreased nerve conduction velocity Oral aversion Cranial nerve paralysis Irritability Skin ulcer Intellectual disability, profound Broad-based gait Encephalocele Pachygyria Recurrent respiratory infections Jaundice Hepatosplenomegaly Mental deterioration Developmental regression Foot dorsiflexor weakness Feeding difficulties in infancy Dolichocephaly Respiratory tract infection Hyperextensible skin Obsessive-compulsive behavior Heart murmur Chronic otitis media Cubitus valgus Ectropion Pleural effusion Scaling skin Failure to thrive in infancy Brittle hair Redundant skin Deep philtrum Relative macrocephaly Abnormality of the optic nerve Palmoplantar hyperkeratosis Abnormality of the testis Delayed CNS myelination Delayed gross motor development Abnormal myocardium morphology Abnormality of refraction Recurrent infections Deep palmar crease Abnormal palate morphology Cutis laxa Oculomotor apraxia Gastrointestinal dysmotility Absent eyebrow Dystrophic fingernails Sparse eyelashes Anal stenosis Abnormality of the ulna Premature skin wrinkling Woolly hair Hypoplasia of the zygomatic bone Absent eyelashes Enlarged kidney Arnold-Chiari type I malformation Abnormal eyelash morphology Alopecia of scalp Atopic dermatitis Thick upper lip vermilion Poor appetite Curly hair Open bite Biparietal narrowing Multiple cafe-au-lait spots Abnormal heart valve morphology Long palpebral fissure Abnormality of the sternum Infantile spasms Neurofibromas Neurodevelopmental delay Aplasia/Hypoplasia of the eyebrow Hydroureter Abnormal hair pattern Malnutrition Abnormal mitral valve morphology Slow-growing hair Erythema Thick vermilion border Webbed neck Laryngeal cleft Dental malocclusion Intestinal malrotation Nevus Full cheeks Palmoplantar keratoderma Sleep disturbance High, narrow palate Hepatic steatosis Functional abnormality of the gastrointestinal tract Tongue thrusting Hypoplasia of the frontal lobes Hyperkeratosis pilaris Retinal dystrophy Abnormality of the hairline Bulbous nose Joint hypermobility Dry skin Genu valgum Short attention span Nail dystrophy Pruritus Abnormal location of ears Scarring Generalized ichthyosis Growth hormone deficiency Thickened helices Frontal balding Abnormal aortic valve morphology Hyperextensibility of the finger joints Abnormality of the nail Abnormality of the pulmonary artery Excessive wrinkled skin Abnormality of hair texture Cavernous hemangioma Sparse or absent eyelashes Aspiration Increased nuchal translucency Cerebral visual impairment Endocarditis Anterior creases of earlobe Progressive visual loss Lymphedema Cafe-au-lait spot Thickened skin Decreased body weight Abnormality of the optic disc Abnormal tricuspid valve morphology Patchy alopecia Inflammatory abnormality of the skin Low posterior hairline Cardiomegaly Narrow forehead Abnormality of the cardiovascular system Sleep apnea Primary amenorrhea Immunodeficiency Radioulnar synostosis Upper limb undergrowth Severe intrauterine growth retardation Synostosis of carpal bones Absent radius Hip contracture Aplasia/Hypoplasia of the thumb Absent thumb Short femoral neck Radial deviation of finger Proximal placement of thumb Clitoral hypertrophy Polycystic kidney dysplasia Abnormality of the upper limb Hypoplasia of the radius Melanoma Sandal gap Wormian bones Knee flexion contracture Bilateral single transverse palmar creases Aortic valve stenosis Short thumb Bowing of the long bones Blue sclerae Underdeveloped nasal alae Capillary hemangioma Patellar aplasia Corneal opacity Diarrhea Delayed eruption of teeth Tapered finger Everted lower lip vermilion Iris coloboma Short philtrum Camptodactyly of finger Deeply set eye Patent ductus arteriosus Hypospadias Absent speech Syndactyly Wide nasal bridge Long penis Premature separation of centromeric heterochromatin Midface capillary hemangioma Tetraphocomelia Mesomelic arm shortening Progressive flexion contractures Absent earlobe Facial hemangioma Complete duplication of thumb phalanx Aplasia of the ulna Wrist flexion contracture Humeroradial synostosis Phocomelia Chest pain Prominent nasal bridge Otitis media Dandy-Walker malformation Adrenal insufficiency Anophthalmia Nephroblastoma Ectopia lentis Anosmia Type I diabetes mellitus Exotropia Dental crowding Renal dysplasia Recurrent urinary tract infections Choanal atresia Microcornea Aniridia Retinal detachment Polymicrogyria Arachnodactyly Smooth philtrum Attention deficit hyperactivity disorder Intellectual disability, moderate Muscular hypotonia of the trunk Hypothyroidism Micropenis Hyperactivity Diabetes mellitus Visual loss Hypopituitarism Limb hypertonia Craniosynostosis Aphakia Paralysis Retrognathia Brachycephaly Clinodactyly Intrauterine growth retardation Brachydactyly Flexion contracture Increased proinsulin:insulin ratio Hypoplasia of the antihelix Aplasia/Hypoplasia of the macula Lumbar kyphosis Central adrenal insufficiency Hypoplasia of the iris Vascular tortuosity Retinal vascular tortuosity Central hypothyroidism Lower limb hypertonia Abnormal glucose tolerance Ocular pain Decreased light- and dark-adapted electroretinogram amplitude Peters anomaly Hyposmia Ectopia pupillae Action tremor Hand tremor Esotropia Focal-onset seizure Cerebellar atrophy Increased variability in muscle fiber diameter Heterochromia iridis Sensorineural hearing impairment Enlarged interhemispheric fissure Speech articulation difficulties Thick hair Prolactin excess Mitochondrial myopathy Poor coordination Hyperthyroidism Multiple lipomas Myopathic facies Gowers sign Vestibular hypofunction Dysdiadochokinesis Schizophrenia Truncal ataxia Limb ataxia Frequent falls Intention tremor Pigmentary retinopathy Amenorrhea Sensory impairment Small hand Inability to walk White forelock High myopia Distal amyotrophy Congenital stationary night blindness Gait disturbance Skeletal muscle atrophy Peripheral neuropathy Anemia Difficulty adjusting from light to dark Incomplete congenital stationary night blindness Axial myopia Protanopia Congenital adrenal hypoplasia Achromatopsia Tapetoretinal degeneration Dyschromatopsia Neoplasm of the skin Adrenal hypoplasia Severe vision loss Abnormal retinal morphology Abnormality of color vision Abnormal electroretinogram Abnormality of metabolism/homeostasis Depigmented fundus Nystagmus-induced head nodding Abnormal macular morphology Abnormal pupil morphology Pendular nystagmus Blurred vision Distal sensory impairment Dysmetria Febrile seizures Pyloric stenosis Chronic constipation Abnormal eyebrow morphology Pulmonary artery stenosis Drowsiness Supernumerary nipple Ectopic kidney Hallux valgus Rocker bottom foot Cupped ear Bifid scrotum Aplasia/Hypoplasia of the cerebellum Drooling Tracheal stenosis Widely spaced teeth Cutaneous syndactyly Absence seizures Pointed chin Postnatal microcephaly Aganglionic megacolon Abnormality of the genital system Recurrent otitis media Sparse scalp hair Sloping forehead Dehydration Tetralogy of Fallot Misalignment of teeth Bruxism Retinopathy Large basal ganglia Distal muscle weakness Pallor Myalgia Kyphoscoliosis Pes cavus Cerebellar hypoplasia Elevated serum creatine phosphokinase Myopathy Muscle weakness Aplasia/Hypoplasia of the cerebral white matter Pulmonary artery sling Abnormal morphology of the hippocampus Large earlobe Abnormal eye morphology Generalized muscle hypertrophy Uplifted earlobe Atypical absence seizures Happy demeanor Deep plantar creases Subglottic stenosis Broad eyebrow Prominent nasal tip Esodeviation Broad columella Broad hallux phalanx Type II lissencephaly



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