Microphthalmia, and High myopia

Diseases related with Microphthalmia and High myopia

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


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High match FOVEAL HYPOPLASIA-OPTIC NERVE DECUSSATION DEFECT-ANTERIOR SEGMENT DYSGENESIS SYNDROME


Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome is a rare, genetic, eye disease characterized by foveal hypoplasia, optic nerve misrouting with an increased number of axons decussating at the optic chiasm and innervating the contralateral cortex, and posterior embryotoxon or Axenfeld anomaly (indicating anterior segment dysgenesis), in the absence of albinism. Patients present congenital nystagmus, decreased visual acuity, refractive errors and, ocassionally, strabismus. Microphthalmia and retinochoroidal coloboma may also be associated.

FOVEAL HYPOPLASIA-OPTIC NERVE DECUSSATION DEFECT-ANTERIOR SEGMENT DYSGENESIS SYNDROME Is also known as foveal hypoplasia 2 with optic nerve decussation defects and anterior segment dysgenesis without albinism|fhonda syndrome|foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis|fhonda

Related symptoms:

  • Global developmental delay
  • Nystagmus
  • Strabismus
  • Visual impairment
  • Myopia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FOVEAL HYPOPLASIA-OPTIC NERVE DECUSSATION DEFECT-ANTERIOR SEGMENT DYSGENESIS SYNDROME

High match MRCS SYNDROME


MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400.

MRCS SYNDROME Is also known as microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome|vitreoretinochoroidopathy, autosomal dominant|advirc|vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos|vitreoretinochoroidopathy with microcornea, glaucoma, and cataract

Related symptoms:

  • Nystagmus
  • Strabismus
  • Cataract
  • Visual impairment
  • Myopia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MRCS SYNDROME

High match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9


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, and congenital muscular dystrophy. The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS), which is associated with death in infancy. 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 Geis et al., 2013 and Riemersma et al., 2015).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, 9; MDDGA9 Is also known as walker-warburg syndrome or muscle-eye brain disease, dag1-related

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Cataract


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9

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High match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), 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. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (Beltran-Valero de Bernabe et al., 2004).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, 5; MDDGA5 Is also known as walker-warburg syndrome or muscle-eye-brain disease, fkrp-related

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Cataract
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5

High match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12; MDDGA12


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. 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 Stevens et al., 2013).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, 12; MDDGA12 Is also known as walker-warburg syndrome or muscle-eye-brain disease, pomk-related

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12; MDDGA12

High match MUSCLE-EYE-BRAIN DISEASE


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), 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. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (summary by Godfrey et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCLE-EYE-BRAIN DISEASE Is also known as meb syndrome|santavuori congenital muscular dystrophy|walker-warburg syndrome or muscle-eye-brain disease, pomgnt1-related|muscle-eye-brain syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MUSCLE-EYE-BRAIN DISEASE

High match AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME


Kenny-Caffey syndrome is characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of the anterior fontanel, eye abnormalities, and transient hypocalcemia. Patients with autosomal dominant KCS type 2 have normal intelligence (Kenny and Linarelli, 1966; Caffey, 1967; summary by Isojima et al., 2014).See KCS1 (OMIM ) for a discussion of an autosomal recessive form of Kenny-Caffey syndrome.

AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME Is also known as kenny syndrome|dwarfism, cortical thickening of tubular bones, and transient hypocalcemia

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME

High match MICROPHTHALMIA WITH BRAIN AND DIGIT ANOMALIES


Microphthalmia with brain and digit anomalies is characterised by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.

MICROPHTHALMIA WITH BRAIN AND DIGIT ANOMALIES Is also known as microphthalmia and pituitary anomalies|microphthalmia with brain and digit developmental anomalies|syndromic microphthalmia type 6|anophthalmia, clinical, with micrognathia, malformed ears, digital anomalies, and abnormal external genitalia|bakrania-ragge

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MICROPHTHALMIA WITH BRAIN AND DIGIT ANOMALIES

High match BARAITSER-WINTER SYNDROME 1; BRWS1


BRWS is a rare developmental phenotype characterized by the combination of hypertelorism, broad nose with large tip and prominent root, congenital nonmyopathic ptosis, ridged metopic suture, arched eyebrows, iris or retinal coloboma, sensorineural deafness, shoulder girdle muscle bulk and progressive joint stiffness, and pachygyria with anteroposterior severity gradient, rarely lissencephaly or neuronal heterotopia. Cleft lip and palate, hallux duplex, congenital heart defects and renal tract anomalies are seen in some cases. Microcephaly may develop with time. Early muscular involvement, occasionally with congenital arthrogryposis, may be present. Intellectual disability and epilepsy are variable in severity and largely correlate with central nervous system anomalies (summary by Verloes et al., 2015). Di Donato et al. (2014) and Verloes et al. (2015) suggested that BRWS, Fryns-Aftimos syndrome, and cerebrofrontofacial syndrome represent the same clinical entity. The phenotype is highly variable (summary by Cuvertino et al., 2017). Genetic Heterogeneity of Baraitser-Winter SyndromeBaraitser-Winter syndrome-2 (BRWS2 ) is caused by heterozygous mutation in the ACTG1 gene (OMIM ) on chromosome 17q25.

BARAITSER-WINTER SYNDROME 1; BRWS1 Is also known as cerebrofrontofacial syndrome|cofls|chromosome 7p22 deletion syndrome|cerebrooculofacial lymphatic syndrome|pachygyria, mental retardation, epilepsy, and characteristic facies|mental retardation with epilepsy and characteristic facies|iris coloboma with pt

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BARAITSER-WINTER SYNDROME 1; BRWS1

High match COHEN SYNDROME; COH1


Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014).

COHEN SYNDROME; COH1 Is also known as chs1, formerly|pepper syndrome|coh|hypotonia, obesity, and prominent incisors

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about COHEN SYNDROME; COH1

Top 5 symptoms//phenotypes associated to Microphthalmia and High myopia

Symptoms // Phenotype % cases
Myopia Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Cataract Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Ventriculomegaly Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Coloboma

Uncommon Symptoms - Between 30% and 50% cases


Seizures Dilatation Muscular hypotonia Intellectual disability Cerebellar hypoplasia Microcephaly Lissencephaly Nystagmus Growth delay Glaucoma Congenital muscular dystrophy Muscular dystrophy Elevated serum creatine phosphokinase Strabismus Hydrocephalus Visual impairment Macrocephaly Reduced visual acuity Severe global developmental delay Hearing impairment Sensorineural hearing impairment Agenesis of corpus callosum Retinal dystrophy Failure to thrive Edema Blindness Motor delay Severe muscular hypotonia Pachygyria Retrognathia Abnormal facial shape Micrognathia Postnatal growth retardation Cryptorchidism Intellectual disability, severe Malar flattening Astigmatism Feeding difficulties Midface retrusion Agyria Iris coloboma Cerebellar cyst Abnormality of the cerebral white matter Intellectual disability, profound Type II lissencephaly Hypoplasia of the brainstem Short stature Hypertelorism Congenital cataract Abnormality of skin pigmentation Abnormality of the skeletal system Retinal detachment Microcornea Retinal degeneration Neonatal hypotonia Chorioretinal coloboma Flexion contracture High palate

Rare Symptoms - Less than 30% cases


Poor head control Posteriorly rotated ears Aplasia/Hypoplasia of the corpus callosum Buphthalmos Brachycephaly Everted lower lip vermilion Progressive microcephaly Encephalocele Neurological speech impairment Scoliosis Hypothyroidism Cerebellar dysplasia Muscle weakness Cerebral cortical atrophy Macrotia Optic atrophy Hypoplasia of the pons Retinal coloboma Clinodactyly of the 5th finger Intrauterine growth retardation Finger syndactyly Respiratory distress Micropenis Low-set ears Protruding ear Neutropenia Holoprosencephaly Small for gestational age Thin upper lip vermilion Wide mouth Cerebellar vermis hypoplasia Smooth philtrum Hypertonia Rod-cone dystrophy Retinopathy Nyctalopia Pigmentary retinopathy Thick vermilion border Highly arched eyebrow Retinal atrophy Ptosis Macular edema Low anterior hairline Microglossia Feeding difficulties in infancy Mandibular prognathia Hypermetropia Absent speech Single transverse palmar crease Bifid uvula Corneal opacity Myopathy Polymicrogyria Hypoplasia of the corpus callosum Duplication of phalanx of hallux Prominent fingertip pads Joint laxity Small posterior fossa Depressed nasal bridge Unilateral ptosis Camptodactyly Downslanted palpebral fissures Ventricular septal defect Small thenar eminence Facial edema U-Shaped upper lip vermilion Coarse facial features Cardiomyopathy Obesity Conductive hearing impairment Gastroesophageal reflux Cleft lip Diabetes mellitus Visual loss Pectus excavatum Hernia Behavioral abnormality Kyphoscoliosis Pes planus Thrombocytopenia Recurrent infections Arthritis Kyphosis Weight loss Overfolded helix Congenital ptosis Abnormality of the sternum Heterotopia Postnatal microcephaly Aortic valve stenosis Hoarse voice Pointed chin Spontaneous abortion Bicuspid aortic valve Short palpebral fissure Abnormality of the outer ear Redundant skin Bilateral ptosis Tracheoesophageal fistula Trigonocephaly Ectropion Hypertrichosis Low posterior hairline Widow's peak Microtia Depressed nasal tip Acute lymphoblastic leukemia Abnormality of the pinna Joint stiffness Inverted nipples Esophageal atresia Leukemia Webbed neck Arthrogryposis multiplex congenita Protruding tongue Long palpebral fissure Cleft upper lip Oral cleft Wide nose Lymphoma Broad forehead Exotropia Intellectual disability, moderate Peripheral visual field loss Bone spicule pigmentation of the retina Furrowed tongue Deep venous thrombosis Misalignment of teeth Facial hypotonia Vocal cord paralysis Gingivitis Posterior subcapsular cataract Hiatus hernia Thoracic scoliosis Aplasia/Hypoplasia of the earlobes Subcapsular cataract Weak cry Celiac disease Narrow nasal bridge Abnormality of the hip bone Truncal obesity Disproportionate tall stature Cerebral hemorrhage Abnormality of dental morphology Abnormality of the larynx Recurrent aphthous stomatitis Cubitus valgus Narrow palm Cat cry Hypoplastic philtrum Childhood-onset truncal obesity Macrodontia of permanent maxillary central incisor Prominent eyelashes Thick corpus callosum High-pitched cry Chorioretinal dysplasia Narrow philtrum Hemeralopia Tapetoretinal degeneration Cutis gyrata of scalp Chorioretinal dystrophy Laryngeal stenosis Hyperplasia of the maxilla Congenital neutropenia Granulocytopenia Bull's eye maculopathy Macrodontia Iris atrophy Thick hair Constriction of peripheral visual field Rheumatoid arthritis Respiratory tract infection Thick eyebrow Otitis media Aciduria Growth hormone deficiency Prominent nose Short metacarpal Hypoplasia of the maxilla Tapered finger Small hand High, narrow palate Joint hypermobility Progressive visual loss Arachnodactyly Joint hyperflexibility Genu valgum Delayed puberty Synophrys Prominent nasal bridge Short philtrum Stroke Paralysis Convex nasal ridge Narrow forehead Failure to thrive in infancy Sandal gap Intracranial hemorrhage Radioulnar synostosis Precocious puberty Short metatarsal Reduced number of teeth Laryngomalacia Recurrent skin infections Venous thrombosis Leukopenia Intellectual disability, progressive Mitral valve prolapse Preauricular skin tag Abnormality of retinal pigmentation Gingival overgrowth Abnormal heart morphology Long eyelashes Tall stature Clumsiness Open mouth Lumbar hyperlordosis Decreased fetal movement Hyperactivity Polydactyly Patent ductus arteriosus Poor speech Abnormally large globe Hypoventilation Occipital encephalocele CNS hypomyelination Arnold-Chiari malformation Respiratory insufficiency due to muscle weakness Bilateral sensorineural hearing impairment Polyhydramnios Spasticity Severe hydrocephalus Aqueductal stenosis Left ventricular hypertrophy Ventricular hypertrophy Dandy-Walker malformation Hyporeflexia Respiratory insufficiency Leukodystrophy Cortical cataract Cognitive impairment Respiratory failure Abnormality of the voice Undetectable electroretinogram Retinal dysplasia Meningocele Megalocornea Congenital glaucoma Cortical dysplasia Hemiplegia/hemiparesis Aplasia/Hypoplasia of the cerebellum Optic nerve hypoplasia Gait disturbance Infantile muscular hypotonia Opacification of the corneal stroma EMG abnormality Generalized muscle weakness Abnormality of movement Pallor EEG abnormality Myoclonus Cerebral calcification Retinal arteriolar occlusion Hypoglycosylation of alpha-dystroglycan Achromatopsia Abnormality of the eye Optic nerve misrouting Inferior chorioretinal coloboma Moderate hypermetropia Foveal hyperpigmentation Horizontal pendular nystagmus Alternating esotropia Axenfeld anomaly Anterior segment developmental abnormality Cone/cone-rod dystrophy Pendular nystagmus Hypoplasia of the fovea Posterior embryotoxon Aniridia Albinism Esotropia Autistic behavior Depressivity Hypopigmentation of the skin Abnormality of color vision Abnormality of chorioretinal pigmentation Presenile cataracts Chorioretinal hypopigmentation Angle closure glaucoma Optically empty vitreous Posterior staphyloma Peripheral retinal atrophy Retinal arteriolar constriction Moderate myopia Retinal neovascularization Pulverulent cataract Abnormal retinal morphology Scleral staphyloma Shallow anterior chamber Cystoid macular edema Cone dysfunction syndrome Vitreous hemorrhage Dyschromatopsia Macular atrophy Chorioretinal atrophy Decreased light- and dark-adapted electroretinogram amplitude Uncontrolled eye movements Abnormality of metabolism/homeostasis Anophthalmia Sclerocornea Adrenal hypoplasia Postaxial foot polydactyly Foot polydactyly Broad palm Short middle phalanx of finger Preaxial hand polydactyly Bifid scrotum Proximal placement of thumb Abnormality of the hypothalamus-pituitary axis Plagiocephaly Microretrognathia Abnormal vertebral morphology Renal hypoplasia Nail dysplasia Postaxial polydactyly Facial asymmetry Toe syndactyly Delayed CNS myelination Anterior hypopituitarism High forehead Aplasia of the optic tract Long philtrum Short nose Dystonia Atrial septal defect Short neck Anteverted nares Wide nasal bridge Epicanthus Small sella turcica Lambdoidal craniosynostosis Flexion contracture of thumb Small scrotum Uplifted earlobe Orbital cyst Inferior vermis hypoplasia Female hypogonadism Abnormality of the cervical spine Anterior pituitary hypoplasia Craniosynostosis Hypospadias Hypoplasia of the retina Decreased testicular size Proportionate short stature Basal ganglia calcification High hypermetropia Delayed cranial suture closure High pitched voice Hypocalcemia Increased bone mineral density Small nail Infertility Hypoparathyroidism Carious teeth Abnormality of the liver Prominent forehead Severe short stature Delayed skeletal maturation Anemia Enlarged flash visual evoked potentials Short nasal bridge Papilledema Hyperphosphatemia Brachydactyly Cortical thickening of long bone diaphyses Cleft palate Abnormality of the medullary cavity of the long bones Abnormal circulating follicle-stimulating hormone level Transient hypophosphatemia Retinal calcification Calvarial osteosclerosis Stenosis of the medullary cavity of the long bones Thin long bone diaphyses Postnatal macrocephaly Decreased skull ossification Congenital hypoparathyroidism Thickened cortex of long bones Hypocalcemic tetany Hypocalcemic seizures Persistence of primary teeth Bilateral microphthalmos Delayed closure of the anterior fontanelle Tetany Slender toe



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