Rod-cone dystrophy, and Microphthalmia

Diseases related with Rod-cone dystrophy and Microphthalmia

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

Top matches:

Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localized foveal schisis and optic disc drusen. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity, and, on occasion, acute-angle glaucoma.

MICROPHTHALMIA-RETINITIS PIGMENTOSA-FOVEOSCHISIS-OPTIC DISC DRUSEN SYNDROME Is also known as nanophtalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome|microphthalmia, posterior, with retinitis pigmentosa, foveoschisis, and optic disc drusen

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Cataract
  • Blindness
  • Microphthalmia


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROPHTHALMIA-RETINITIS PIGMENTOSA-FOVEOSCHISIS-OPTIC DISC DRUSEN SYNDROME

Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis syndrome characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy) and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisures, abnormal bridge connecting the crus of the helix and the antihelix, narrow external acoustic meatus, and lobule aplasia).

OCULOAURICULAR SYNDROME, SCHORDERET TYPE Is also known as schorderet-munier-franceschetti syndrome|microphthalmia, microcornea, anterior segment dysgenesis, cataract, ocular coloboma, retinal pigment epithelium abnormalities, rod-cone dystrophy, and anomalies of the external ear

Related symptoms:

  • Nystagmus
  • Strabismus
  • Cataract
  • Microphthalmia
  • Rod-cone dystrophy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about OCULOAURICULAR SYNDROME, SCHORDERET TYPE

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

Other less relevant matches:

Medium 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

Related symptoms:

  • Microphthalmia
  • Amenorrhea
  • Primary amenorrhea
  • Macular dystrophy
  • Increased circulating gonadotropin level


SOURCES: OMIM MENDELIAN

More info about PREMATURE OVARIAN FAILURE 12; POF12

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

Autosomal recessive chorioretinopathy-microcephaly syndrome is a rare neuro-opthalmological disease characterized by severe microcephaly of prenatal onset (with diminutive anterior fontanelle and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophtalmia, generalized retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, symplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits.

AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY SYNDROME Is also known as autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY SYNDROME

Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.

SPONDYLOMETAPHYSEAL DYSPLASIA-CONE-ROD DYSTROPHY SYNDROME Is also known as smd-crd

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SPONDYLOMETAPHYSEAL DYSPLASIA-CONE-ROD DYSTROPHY SYNDROME

Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.

SYNDROMIC MICROPHTHALMIA TYPE 5 Is also known as mcops5|syndromic microphthalmia/anophthalmia due to otx2 mutation

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MICROPHTHALMIA TYPE 5

Top 5 symptoms//phenotypes associated to Rod-cone dystrophy and Microphthalmia

Symptoms // Phenotype % cases
Cataract Common - Between 50% and 80% cases
Retinal dystrophy Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Cone/cone-rod dystrophy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Rod-cone dystrophy and Microphthalmia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Strabismus Myopia Glaucoma Visual impairment Short stature Generalized hypotonia Microcornea Retinopathy Pigmentary retinopathy Astigmatism Coloboma Global developmental delay Retinal detachment Abnormality of skin pigmentation Reduced visual acuity Nyctalopia Iris coloboma Blindness High myopia Macular atrophy Photophobia Seizures Congenital cataract Scoliosis Peripheral visual field loss Intellectual disability, severe

Rare Symptoms - Less than 30% cases

Abnormality of retinal pigmentation Microcephaly Hypoplasia of the maxilla Protruding ear Abnormality of color vision Postnatal growth retardation Retinal atrophy Joint laxity Hypothyroidism Macular edema Cone dysfunction syndrome Progressive visual loss Scarring Thoracic scoliosis Cerebellar hypoplasia Hearing impairment Visual loss Growth delay Failure to thrive Micrognathia Abnormal facial shape Muscular hypotonia Short metacarpal Cryptorchidism Microglossia Optic atrophy Macrocephaly Downslanted palpebral fissures Respiratory distress Dilatation Chorioretinal dysplasia Buphthalmos Intrauterine growth retardation Chorioretinal coloboma Cystoid macular edema High hypermetropia Hypertonia Edema Abnormality of the skeletal system Bone spicule pigmentation of the retina Posterior embryotoxon Horizontal nystagmus Corneal opacity Hypopigmentation of the skin Retinal degeneration Shallow anterior chamber Hydrocephalus Hypoplasia of the corpus callosum Miosis Ventriculomegaly Optic nerve dysplasia Corneal scarring Macular scar Congenital glaucoma Mandibular aplasia Narrow greater sacrosciatic notches Myopathy Leukodystrophy Agyria Cerebellar cyst Congenital muscular dystrophy Poor head control Holoprosencephaly Lissencephaly Cerebellar vermis hypoplasia Proboscis Intellectual disability, profound Cerebral calcification Polymicrogyria Abnormality of the cerebral white matter Muscular dystrophy Respiratory failure Elevated serum creatine phosphokinase Absent speech Primary amenorrhea Increased circulating gonadotropin level Recurrent aphthous stomatitis Granulocytopenia Bull's eye maculopathy Macrodontia Iris atrophy Thick hair Tapetoretinal degeneration Aplasia/Hypoplasia of the earlobes Hyperplasia of the maxilla Abnormality of the larynx Furrowed tongue Deep venous thrombosis Misalignment of teeth Facial hypotonia Aglossia Congenital neutropenia Laryngeal stenosis Macular dystrophy Macrodontia of permanent maxillary central incisor Hyperreflexia Amenorrhea Slender toe Cat cry Hypoplastic philtrum Childhood-onset truncal obesity Prominent eyelashes Chorioretinal dystrophy Thick corpus callosum High-pitched cry Narrow philtrum Narrow palm Hemeralopia Cutis gyrata of scalp Spasticity Central hypothyroidism Wide nasal bridge Talipes equinovarus Bowing of the legs Cupped ribs Large central visual field defect Tibial torsion Hypoplastic inferior ilia Cleft palate Respiratory insufficiency Femoral bowing Metaphyseal irregularity Agenesis of corpus callosum Posteriorly rotated ears Metaphyseal widening Micropenis Narrow mouth Flared metaphysis Tibial bowing Rhizomelia Spondylometaphyseal dysplasia Decreased hip abduction Abnormality of macular pigmentation Limited elbow movement Retinal thinning Metaphyseal cupping Severe platyspondyly Enlarged joints Short finger Optic nerve coloboma Ectopia pupillae Ovoid vertebral bodies Beaking of vertebral bodies Iris hypopigmentation Disproportionate short stature Coxa vara Bowing of the long bones Anteverted nares Lymphedema Abnormal eyelash morphology Biparietal narrowing Cortical gyral simplification Abnormality of neuronal migration Aplasia/Hypoplasia of the cerebellum Pointed chin Pachygyria Vitreoretinopathy Optic disc pallor Retinal dysplasia Sloping forehead Cerebral cortical atrophy Cerebral atrophy Ectopic posterior pituitary Hypoplasia of the fovea Short middle phalanx of finger Recurrent otitis media Dental malocclusion Microretrognathia Arnold-Chiari malformation Optic nerve hypoplasia Abnormality of the ribs Limb undergrowth Waddling gait Short palm Retinal fold Anophthalmia Platyspondyly Joint stiffness Hyperlordosis Severe short stature Brachydactyly Vocal cord paralysis Open mouth Gingivitis Retinal arteriolar occlusion Depressed nasal bridge Motor delay High palate Ptosis Sensorineural hearing impairment Hypertelorism Abnormality of chorioretinal pigmentation Cardiomyopathy Chorioretinal hypopigmentation Angle closure glaucoma Optically empty vitreous Posterior staphyloma Peripheral retinal atrophy Retinal arteriolar constriction Ventricular septal defect Behavioral abnormality Retinal neovascularization Diabetes mellitus Pes planus Retrognathia Kyphoscoliosis Macrotia Gastroesophageal reflux Mandibular prognathia Clinodactyly of the 5th finger Kyphosis Pectus excavatum Obesity Hernia Thrombocytopenia Recurrent infections Malar flattening Moderate myopia Presenile cataracts Neonatal hypotonia Macular thickening Increased intraocular pressure Congenital nystagmus Abnormality of the ear Spina bifida occulta Spina bifida Abnormality of the pinna Foveoschisis Anterior segment developmental abnormality Optic disc drusen Scleral thickening Abnormal light- and dark-adapted electroretinogram Retinal pigment epithelial atrophy Drusen Hypermetropia Sclerocornea Anterior synechiae of the anterior chamber Pulverulent cataract Iris cyst Scleral staphyloma Vitreous hemorrhage Dyschromatopsia Chorioretinal atrophy Abnormal retinal morphology Abnormality of the eye Inferior chorioretinal coloboma Nasolacrimal duct obstruction Exodeviation Microphakia Short mandibular rami Posterior synechiae of the anterior chamber Polar cataract Macular hypoplasia Thin upper lip vermilion Arthritis Posterior subcapsular cataract Intellectual disability, progressive Reduced number of teeth Laryngomalacia Recurrent skin infections Venous thrombosis Leukopenia Sandal gap Low anterior hairline Precocious puberty Preauricular skin tag Progressive microcephaly Gingival overgrowth Exotropia Long eyelashes Tall stature Short metatarsal Radioulnar synostosis Lumbar hyperlordosis Truncal obesity Hiatus hernia Subcapsular cataract Weak cry Celiac disease Narrow nasal bridge Abnormality of the hip bone Disproportionate tall stature Intracranial hemorrhage Cerebral hemorrhage Abnormality of dental morphology Constriction of peripheral visual field Cubitus valgus Rheumatoid arthritis Failure to thrive in infancy Clumsiness Decreased fetal movement Intellectual disability, moderate Small for gestational age Genu valgum Delayed puberty Synophrys Severe global developmental delay Neurological speech impairment Finger syndactyly Prominent nasal bridge Smooth philtrum Short philtrum Stroke Wide mouth Paralysis Respiratory tract infection Feeding difficulties in infancy Joint hyperflexibility Arachnodactyly Mitral valve prolapse Neutropenia Narrow forehead Convex nasal ridge Otitis media Aciduria Growth hormone deficiency Prominent nose Single transverse palmar crease Joint hypermobility Tapered finger Highly arched eyebrow Small hand High, narrow palate Thick vermilion border Thick eyebrow Myopic astigmatism


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