Cataract, and Flexion contracture

Diseases related with Cataract and Flexion contracture

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


Top matches:

Low match CATARACT 36; CTRCT36


CATARACT 36; CTRCT36 Is also known as cataract, autosomal recessive congenital 4|catc4

Related symptoms:

  • Cataract


SOURCES: OMIM MENDELIAN

More info about CATARACT 36; CTRCT36

Low match HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME


Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.

HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME Is also known as hereditary hyperferritinemia with congenital cataracts|bonneau-beaumont syndrome|hhcs

Related symptoms:

  • Cataract
  • Abnormality of metabolism/homeostasis


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME

Low match PROXIMAL MYOTONIC MYOPATHY


Myotonic dystrophy type 2 (MD2), also known as proximal myotonic myopathy, is a very rare genetic multi-system disorder of late childhood or adult-onset characterized by mild myotonia, muscle weakness, and rarely cardiac conduction disorders.

PROXIMAL MYOTONIC MYOPATHY Is also known as ricker syndrome|proximal myotonic dystrophy|myotonic dystrophy type 2|ricker disease

Related symptoms:

  • Cataract
  • Myotonia


SOURCES: ORPHANET MENDELIAN

More info about PROXIMAL MYOTONIC MYOPATHY

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Other less relevant matches:

Low match AUTOSOMAL DOMINANT PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA


Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.

AUTOSOMAL DOMINANT PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA Is also known as ppkca, stevanovic type|keratoderma-hypotrichosis-leukonychia totalis syndrome|palmoplantar keratoderma and congenital alopecia, stevanovic type|autosomal dominant palmoplantar hyperkeratosis and congenital alopecia|ppk-ca, stevanovic type

Related symptoms:

  • Scoliosis
  • Cataract
  • Flexion contracture
  • Alopecia
  • Hyperhidrosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA

Low match KAHRIZI SYNDROME; KHRZ


Kahrizi syndrome is an autosomal recessive neurodevelopmental disorder characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features (summary by Kahrizi et al., 2009).See also congenital disorder of glycosylation type Iq (CDG1Q ), an allelic disorder with overlapping features.

KAHRIZI SYNDROME; KHRZ Is also known as mental retardation, cataract, coloboma, and kyphosis, autosomal recessive

Related symptoms:

  • Intellectual disability
  • Seizures
  • Cataract
  • Flexion contracture
  • Motor delay


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about KAHRIZI SYNDROME; KHRZ

Low match TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE; TTD3


Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. Patients with TTD have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008).For a discussion of genetic heterogeneity of TTD, see {601675}.

TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE; TTD3 Is also known as ttda|trichothiodystrophy, complementation group a

Related symptoms:

  • Intellectual disability
  • Short stature
  • Neoplasm
  • Cataract
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE; TTD3

Low match MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO ZNF335 DEFICIENCY


Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur.

MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO ZNF335 DEFICIENCY Is also known as microcephalic primordial dwarfism, walsh type

Related symptoms:

  • Microcephaly
  • Micrognathia
  • Cataract
  • Spasticity
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO ZNF335 DEFICIENCY

Low match MICROCEPHALY-CONGENITAL CATARACT-PSORIASIFORM DERMATITIS SYNDROME


SC4MOL deficiency represents an inborn error of cholesterol metabolism that is characterized by accumulation of a large amount of methylsterols, particularly dimethylsterols, in affected patients. The associated features of immune dysregulation, skin disease, and growth delay can be at least partially corrected with cholesterol and statin supplements (He et al., 2014).

MICROCEPHALY-CONGENITAL CATARACT-PSORIASIFORM DERMATITIS SYNDROME Is also known as smo deficiency|sterol-c4-methyl oxidase deficiency|sc4mol deficiency

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROCEPHALY-CONGENITAL CATARACT-PSORIASIFORM DERMATITIS SYNDROME

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6; MDDGA6


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' (Godfrey et al., 2007).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, 6; MDDGA6 Is also known as walker-warburg syndrome or muscle-eye-brain disease, large-related

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Cataract
  • Flexion contracture
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6; MDDGA6

Low match FAMILIAL AORTIC DISSECTION


Familial aortic dissection is the term used to describe rupture of the aortic wall at the level of the media, resulting in the formation of a false channel and deviation of part of the aortic flux. Familial predisposition to thoracic aortic aneurysms and type A dissections (concerning the ascending aorta and/or the aortic arch) has been demonstrated in around 19% of patients presenting with thoracic aortic dissections and several loci have been identified so far (16p12.2-p13.13, 3p24-25). This predisposition is transmitted in an autosomal dominant manner.

FAMILIAL AORTIC DISSECTION Is also known as aortic aneurysm, familial thoracic|annuloaortic ectasia|cystic medial necrosis of aorta|aortic dissection, familial|aneurysm, thoracic aortic|faa1

Related symptoms:

  • Cataract
  • Flexion contracture
  • Hypertension
  • Dilatation
  • Pectus excavatum


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL AORTIC DISSECTION

Top 5 symptoms//phenotypes associated to Cataract and Flexion contracture

Symptoms // Phenotype % cases
Ichthyosis Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Congenital cataract Rare - less than 30% cases
Coloboma Rare - less than 30% cases
Erythroderma Rare - less than 30% cases
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Other less frequent symptoms

Patients with Cataract and Flexion contracture. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Microcephaly Dilatation Ventriculomegaly Brittle hair Short stature Abnormality of skin pigmentation Elevated serum creatine phosphokinase Congenital muscular dystrophy Growth delay Lissencephaly Severe muscular hypotonia Intellectual disability, profound Dandy-Walker malformation Failure to thrive Polymicrogyria Intellectual disability, mild Abnormality of the cerebral white matter Muscular dystrophy Cerebellar hypoplasia Delayed skeletal maturation Blepharitis Arthralgia Areflexia Delayed puberty Hydrocephalus Inflammatory abnormality of the skin Retinal dysplasia Myopia Feeding difficulties Generalized hypotonia Psoriasiform dermatitis Decreased LDL cholesterol concentration Hypocholesterolemia Immune dysregulation Optic atrophy Diffuse white matter abnormalities Hypoplasia of the pons Thoracic aortic aneurysm Exertional dyspnea Aortic root aneurysm Dilatation of the cerebral artery Aortic dissection Peripheral arterial stenosis Left ventricular failure Abdominal aortic aneurysm Coronary artery atherosclerosis Ascending aortic dissection Cystic medial necrosis Carotid artery dilatation Descending thoracic aorta aneurysm Descending aortic dissection Paroxysmal dyspnea Cystic medial necrosis of the aorta Hypoplastic left heart Cutis marmorata Type II lissencephaly Stroke Cerebellar cyst Abnormal neuron morphology Frontoparietal polymicrogyria Hypertension Pectus excavatum Patent ductus arteriosus Retinal detachment Aortic aneurysm Chest pain Cardiomegaly Coarctation of aorta Aortic valve stenosis Atherosclerosis Aortic regurgitation Bicuspid aortic valve Global developmental delay Choanal atresia Abnormality of the cerebral cortex Leukonychia Thick lower lip vermilion Thick vermilion border Iris coloboma Bulbous nose Coarse facial features Kyphosis Intellectual disability, severe Wide nasal bridge Motor delay Seizures Congenital alopecia totalis Sclerodactyly Trichodysplasia Fingernail dysplasia Trichorrhexis nodosa Knee flexion contracture Hypotrichosis Myotonia Scoliosis Alopecia Hyperhidrosis Hyperkeratosis Erythema Dry skin Amniotic constriction ring Palmoplantar keratoderma Ectodermal dysplasia Nail dysplasia Palmoplantar hyperkeratosis Dystrophic fingernails Subungual hyperkeratosis Elbow flexion contracture Intellectual disability, progressive Abnormality of the cerebrum Cerebral atrophy Small cerebral cortex Profound global developmental delay Cortical gyral simplification Abnormality of metabolism/homeostasis Sloping forehead Neuronal loss in central nervous system Delayed myelination Brain atrophy Gliosis Abnormal cerebellum morphology Arthrogryposis multiplex congenita Severe global developmental delay Small for gestational age Prominent nasal bridge Cerebellar atrophy Hemangioma Joint contracture of the hand Thoracic kyphosis Capillary hemangioma Neoplasm Asthma Cutaneous photosensitivity Telangiectasia Neoplasm of the skin Intrauterine growth retardation Decreased fertility Freckling Congenital nonbullous ichthyosiform erythroderma Tiger tail banding Micrognathia Spasticity Iris flocculi



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