Cataract, and Lymphedema

Diseases related with Cataract and Lymphedema

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


Top matches:

Low match AUTOSOMAL DOMINANT CEREBELLAR ATAXIA-DEAFNESS-NARCOLEPSY SYNDROME


Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.

AUTOSOMAL DOMINANT CEREBELLAR ATAXIA-DEAFNESS-NARCOLEPSY SYNDROME Is also known as adca-dn syndrome

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT CEREBELLAR ATAXIA-DEAFNESS-NARCOLEPSY SYNDROME

Low match AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY SYNDROME


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

Low match CRONKHITE-CANADA SYNDROME


Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation.

CRONKHITE-CANADA SYNDROME Is also known as gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome|gastrointestinal polyposis-ectodermal changes syndrome|cronkhite-canada syndrome

Related symptoms:

  • Seizures
  • Neoplasm
  • Muscle weakness
  • Pain
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CRONKHITE-CANADA SYNDROME

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match ALG8-CDG


ALG8-CDG is a form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis; see this term), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.

ALG8-CDG Is also known as cdg-ih|congenital disorder of glycosylation type 1h|cdgih|carbohydrate deficient glycoprotein syndrome type ih|cdg1h|cdg syndrome type ih|cdg ih|glucosyltransferase 2 deficiency|congenital disorder of glycosylation type ih

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ALG8-CDG

Low match MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME


Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.

MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME Is also known as mlcrd

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME

Low match LYMPHEDEMA-DISTICHIASIS SYNDROME


Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations.

LYMPHEDEMA-DISTICHIASIS SYNDROME Is also known as lymphedema with distichiasis

Related symptoms:

  • Muscle weakness
  • Cleft palate
  • Pain
  • Cataract
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about LYMPHEDEMA-DISTICHIASIS SYNDROME

Low match SCHINDLER DISEASE, TYPE I


Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disorder. It is clinically heterogeneous with 3 main phenotypes: type I is an infantile-onset neuroaxonal dystrophy; type II, also known as Kanzaki disease (OMIM ), is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment; and type III is an intermediate disorder with mild to moderate neurologic manifestations (Desnick and Schindler, 2001).

SCHINDLER DISEASE, TYPE I Is also known as neuroaxonal dystrophy, schindler type|naga deficiency, type i|alpha-n-acetylgalactosaminidase deficiency, type i

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about SCHINDLER DISEASE, TYPE I

Low match NEVUS OF ITO


Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and in rare occasions, mayoccur together with the latter.

NEVUS OF ITO Is also known as incontinentia pigmenti, familial male-lethal type|nevus fuscocaeruleus acromiodeltoideus|ip2, formerly|bloch-sulzberger syndrome|incontinentia pigmenti, type ii, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Neoplasm


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEVUS OF ITO

Low match ADAMS-OLIVER SYNDROME 2; AOS2


Adams-Oliver syndrome-2 is an autosomal recessive multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects, in association with variable involvement of the brain, eyes, and cardiovascular systems (summary by Shaheen et al., 2011).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 2; AOS2

Low 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 lymphedema, microcephaly, chorioretinopathy syndrome|cdmmr syndrome|mlcrd syndrome|lymphedema and retinal folds with microcephaly and microphthalmos|microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant|microcephaly, ly

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

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

Top 5 symptoms//phenotypes associated to Cataract and Lymphedema

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Optic atrophy Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Microcephaly Microphthalmia Retinal detachment Hypertonia Protruding ear Strabismus Nystagmus Edema Ptosis Cerebellar hypoplasia Short stature Alopecia Visual impairment Wide nasal bridge Intrauterine growth retardation Anteverted nares Intellectual disability, severe Hepatomegaly Long philtrum Glaucoma Epicanthus Chorioretinal dysplasia Retinal fold Retinopathy Abnormality of skin pigmentation Retinal dystrophy Muscular hypotonia Abnormal eyelash morphology Visual loss Abnormality of retinal pigmentation Pointed chin Blindness Sloping forehead Hearing impairment Hyperreflexia Thick vermilion border Cerebral atrophy Cellulitis

Rare Symptoms - Less than 30% cases


Abnormal facial shape Erysipelas Panniculitis Melanonychia Congenital cataract Tetraplegia Patent ductus arteriosus Micrognathia Brachydactyly Dry skin Atrial septal defect Failure to thrive Hypertelorism Depressed nasal bridge Growth delay Protein-losing enteropathy Abnormality of the vasculature Hypoplasia of the corpus callosum Hypoalbuminemia Abnormal intestine morphology Hyperpigmentation of the skin Myopia Chylothorax Abnormal nasolacrimal system morphology Skin ulcer Leukemia Paresthesia Full cheeks Lymphoma Specific learning disability Status epilepticus Subcutaneous nodule Thickened skin Amblyopia Rigidity Wide nose Muscle stiffness Venous thrombosis Scaling skin Anophthalmia Underdeveloped supraorbital ridges Upslanted palpebral fissure Gangrene Severe short stature Abnormal toenail morphology Leukonychia Nail dysplasia Retinal dysplasia Malabsorption Diabetes mellitus Macrocephaly Anemia Pain Peripheral neuropathy Muscle weakness Neoplasm Abnormality of the nervous system Diarrhea Abnormality of the cerebral white matter Vitreoretinopathy Cortical gyral simplification Pigmentary retinopathy Cerebral cortical atrophy Scoliosis Predominantly lower limb lymphedema Vomiting Sensorineural hearing impairment Depressivity Nail dystrophy Immunodeficiency Supernumerary ribs Anodontia Conical tooth Ridged nail Thick nail Vascular skin abnormality Diffuse white matter abnormalities Generalized osteosclerosis Psychomotor deterioration Vegetative state Breast hypoplasia Generalized amyotrophy Breast aplasia Hypohidrotic ectodermal dysplasia Scarring alopecia of scalp Pustule Retinal hemorrhage Recurrent pneumonia Nail pits Clonus Hyperpigmented streaks Retinal vascular proliferation Atrophic, patchy alopecia Tremor Low-set ears Flexion contracture Delayed speech and language development Hypoplasia of the fovea Uveitis Recurrent infections Ectodermal dysplasia Hyperkeratosis Kyphoscoliosis Pallor Erythema Sparse hair Scarring Abnormality of the dentition Skin rash Papule Delayed eruption of teeth Hypopigmentation of the skin Hypodontia Nevus Fever Hypoplastic nipples Abnormal blistering of the skin Increased urinary O-linked sialopeptides Oligosacchariduria Fine hair Long-tract signs Angiokeratoma corporis diffusum Hemivertebrae Eosinophilia Progressive psychomotor deterioration Coarse hair Angiokeratoma Keratitis Hyperostosis Supernumerary nipple Increased bone mineral density Posteriorly rotated ears Ventriculomegaly Broad nasal tip Prominent forehead Hyperactivity Reduced visual acuity Mandibular prognathia Macrotia Thin upper lip vermilion Neonatal hypotonia Aggressive behavior Attention deficit hyperactivity disorder Corneal opacity Hypermetropia Astigmatism Sleep disturbance Microcornea Overgrowth Downslanted palpebral fissures Bilateral sensorineural hearing impairment Thick lower lip vermilion Optic nerve hypoplasia Deep philtrum Bilateral ptosis Patent foramen ovale Flat occiput Agitation Chorioretinal atrophy Congenital microcephaly Prominent nasal tip Retinal thinning Exudative vitreoretinopathy Myopic astigmatism Intellectual disability, mild Retinal nonattachment Hydrocephalus Oligohydramnios Syndactyly Dilatation Abnormal heart morphology Agenesis of corpus callosum Cardiomegaly Deeply set eye Muscular hypotonia of the trunk Polymicrogyria Bulbous nose Short distal phalanx of finger Short foot Single transverse palmar crease Gliosis Wide intermamillary distance Small nail Adactyly Aplasia cutis congenita Cutis marmorata telangiectatica congenita High-pitched cry Retrocerebellar cyst Aplasia cutis congenita of scalp Periventricular leukomalacia Corpus callosum atrophy Short finger Blue sclerae Cutis marmorata Dermal atrophy Cerebral palsy Narrow palpebral fissure Low anterior hairline Wide anterior fontanel Cerebral visual impairment Coarse facial features Generalized-onset seizure Tachypnea Talipes equinovarus Short neck Thrombocytopenia Hypothyroidism Dyspnea Camptodactyly Abnormal cardiac septum morphology Hepatic failure Pulmonary hypoplasia Ascites Decreased fetal movement Cholestasis Large fontanelles Decreased liver function Abnormality of the renal tubule Cryptorchidism Primary hypothyroidism Abnormal isoelectric focusing of serum transferrin Biparietal narrowing Abnormality of neuronal migration Aplasia/Hypoplasia of the cerebellum Cone/cone-rod dystrophy Pachygyria Optic disc pallor Abnormality of the eye Dilated third ventricle Pseudobulbar signs Cataplexy Narcolepsy Excessive daytime sleepiness Ventricular septal defect Fatigue Primitive reflex Thromboembolism Anorexia Autoimmunity Hypocalcemia Abnormality of the fingernails Weight loss Cachexia Hypokalemia Abdominal pain Clubbing Hypoplastic toenails Aplasia/Hypoplasia of the eyebrow Colon cancer Sparse body hair Generalized hyperpigmentation Xerostomia Decreased taste sensation Splenomegaly Hypomagnesemia Hematochezia Dystrophic toenail Clubbing of fingers Furrowed tongue Dystrophic fingernails Intestinal polyposis Stomach cancer Hamartomatous polyposis Peripheral edema Patchy alopecia Glossitis Gastrointestinal carcinoma Abnormality of the cerebrospinal fluid Head tremor Generalized myoclonic seizures Spinalarachnoid cyst Conjunctivitis Recurrent skin infections Ectropion Glomerulopathy Overweight Tubulointerstitial nephritis Corneal erosion Varicose veins Venous insufficiency Distichiasis Renal duplication Knee pain Fibrosarcoma Abnormality of the pulmonary vasculature Lipedema Telangiectasia Cognitive impairment Constipation Myoclonus Autism Gastroesophageal reflux Osteopenia Skeletal dysplasia Tapered finger Hypertrophic cardiomyopathy Apnea Developmental regression Severe global developmental delay Vertigo Cerebellar atrophy Gynecomastia Recurrent urinary tract infections Atrophy/Degeneration affecting the brainstem Abnormality of the optic nerve Resting tremor Abnormality of the hair Abnormality of mitochondrial metabolism Psychosis Abnormality of vision Neuronal loss in central nervous system Pleural effusion Memory impairment Urinary incontinence Progressive cerebellar ataxia Polyneuropathy Abnormal eyelid morphology Sensory neuropathy Ataxia Mental deterioration Webbed neck Dementia Babinski sign Cleft palate Abnormality of cardiovascular system morphology Obesity Arrhythmia Hypogonadism Photophobia Anxiety Proteinuria Abnormality of the liver Cleft upper lip Bruising susceptibility Growth hormone deficiency Chorioretinal lacunae



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Deeply set eye, related diseases and genetic alterations Depressed nasal bridge and Cerebral calcification, related diseases and genetic alterations Myopathy and Pancytopenia, related diseases and genetic alterations Failure to thrive and Hypodontia, related diseases and genetic alterations Hypertension and Sparse scalp hair, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more