Cataract, and Joint hypermobility

Diseases related with Cataract and Joint hypermobility

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


Top matches:

Low match ALDH18A1-RELATED DE BARSY SYNDROME


ALDH18A1-related De Barsy syndrome combines intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity.

ALDH18A1-RELATED DE BARSY SYNDROME Is also known as neurocutaneous syndrome, bicknell type|p5cs deficiency|delta-1-pyrroline 5-carboxylate synthetase deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Cataract
  • Joint hyperflexibility
  • Hyperextensible skin


SOURCES: ORPHANET MENDELIAN

More info about ALDH18A1-RELATED DE BARSY SYNDROME

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

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Other less relevant matches:

Low match ACROGERIA


ACROGERIA Is also known as acrometageria|metageria|acrogeria, gottron type|gottron syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Micrognathia
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ACROGERIA

Low match STICKLER SYNDROME TYPE 1


Related symptoms:

  • Intellectual disability
  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract
  • Myopia


SOURCES: ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 1

Low match AUTOSOMAL RECESSIVE STICKLER SYNDROME


Autosomal recessive Stickler syndrome is a rare type of Stickler syndrome (see this term), found in one family to date, caused by a mutation in the COL9A1 gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms

Related symptoms:

  • Short stature
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE STICKLER SYNDROME

Low match ISOLATED ECTOPIA LENTIS


Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity.

ISOLATED ECTOPIA LENTIS Is also known as ectopia lentis syndrome|familial ectopia lentis

Related symptoms:

  • Scoliosis
  • Nystagmus
  • Cataract
  • Cognitive impairment
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED ECTOPIA LENTIS

Low match NAIL-PATELLA SYNDROME


Nail-patella syndrome (NPS) is a rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.

NAIL-PATELLA SYNDROME Is also known as turner-kieser syndrome|onychoosteodysplasia

Related symptoms:

  • Hearing impairment
  • Cataract
  • Hypertension
  • Renal insufficiency
  • Glaucoma


SOURCES: ORPHANET MENDELIAN

More info about NAIL-PATELLA SYNDROME

Low match STICKLER SYNDROME TYPE 3


Stickler syndrome type 3 is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.

STICKLER SYNDROME TYPE 3 Is also known as stickler syndrome, vitreous type 2|stickler syndrome, beaded vitreous type|stickler syndrome, non-ocular type

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 3

Low match BRACHYDACTYLY TYPE E


Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short.

BRACHYDACTYLY TYPE E Is also known as bde|brachydactyly, type e

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about BRACHYDACTYLY TYPE E

Top 5 symptoms//phenotypes associated to Cataract and Joint hypermobility

Symptoms // Phenotype % cases
Joint hyperflexibility Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
Myopia Uncommon - Between 30% and 50% cases
Retinal detachment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Osteoarthritis Sensorineural hearing impairment Skeletal dysplasia Micrognathia Short stature Malar flattening

Rare Symptoms - Less than 30% cases


Joint stiffness Abnormality of epiphysis morphology Nystagmus Mitral valve prolapse Platyspondyly Arthralgia Hypertension Long philtrum Astigmatism Abnormal vitreous humor morphology Arachnodactyly Amblyopia Exostoses Scoliosis Glaucoma Hearing impairment Cubitus valgus Anteverted nares Hypoplastic toenails Glomerulopathy Joint swelling Depressed nasal bridge Patellar dislocation Aplasia/Hypoplasia of the patella Abnormality of the elbow Thickening of the lateral border of the scapula Abnormal toenail morphology Abnormality of the lower limb Iliac horns Abnormality of the upper limb Ridged nail Concave nail Aplastic/hypoplastic toenail Midface retrusion Spondyloepiphyseal dysplasia Pectus excavatum Short distal phalanx of finger Straight clavicles Type E brachydactyly Multiple impacted teeth Moderately short stature Upper limb asymmetry Ectopic calcification Pseudohypoparathyroidism Short clavicles Short metatarsal Short metacarpal Round face Frontal bossing Retinopathy Macrocephaly Brachydactyly Ataxia Abnormal metacarpal morphology Pierre-Robin sequence Glossoptosis Arthropathy Long fingers Joint dislocation Bifid uvula Pectus carinatum Abnormality of the fingernails Ectopia pupillae Vasculitis Lipoatrophy Visual loss Short nose Cigarette-paper scars Excessive wrinkled skin Premature skin wrinkling Irregular hyperpigmentation Prematurely aged appearance Telangiectasia of the skin Aplasia/Hypoplasia of the skin Dermal atrophy Hypoplasia of the maxilla Skin ulcer Thin skin Fine hair Convex nasal ridge Abnormality of the skin Short foot Small hand Abnormality of metabolism/homeostasis Hyperextensible skin Proptosis Abnormality of vertebral epiphysis morphology Nephrotic syndrome Global developmental delay Nephropathy Hematuria Proteinuria Renal insufficiency Myopic astigmatism Posterior synechiae of the anterior chamber Iris atrophy Homocystinuria Abnormal pupil morphology Uveitis Genu valgum Ectopia lentis Mandibular prognathia Reduced visual acuity Abnormal heart morphology Visual impairment Cognitive impairment Vitreoretinopathy Irregular vertebral endplates Epiphyseal dysplasia Flat face Aplasia/Hypoplasia of the distal phalanx of the hallux



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