Cataract, and Polydactyly

Diseases related with Cataract and Polydactyly

In the following list you will find some of the most common rare diseases related to Cataract and Polydactyly 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 NEVUS COMEDONICUS SYNDROME


Nevus comedonicus (NC) is a rare type of epidermal nevus with predilection for the face and neck area. The condition develops within the first decade of life in most patients. NC is characterized by dilated, plugged follicular ostia containing lamellar keratinaceous material and grouped in a honeycomb pattern; the distribution of lesions may be unilateral, bilateral, linear, interrupted, segmental, or along the lines of Blaschko. NC may be nonpyogenic with an acne-like appearance or associated with the formation of cysts, papules, pustules, and abscesses. Histologically, the lesions are large, grouped, dilated follicular ostia devoid of hair shafts but filled with keratin layers (summary by Tchernev et al., 2013).

Related symptoms:

  • Seizures
  • Microcephaly
  • Scoliosis
  • Cataract
  • Alopecia


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEVUS COMEDONICUS SYNDROME

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Other less relevant matches:

Low match MORM SYNDROME


MORM syndrome is characterised by the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34.

MORM SYNDROME Is also known as morm syndrome|mental retardation-truncal obesity-retinal dystrophy-micropenis syndrome|intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Abnormal facial shape
  • Cataract
  • Delayed speech and language development


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MORM SYNDROME

Low match CONE-ROD DYSTROPHY 16; CORD16


Cone-rod dystrophy (CORD) and retinitis pigmentosa (RP) are clinically and genetically overlapping heterogeneous retinal dystrophies. RP is characterized initially by rod photoreceptor dysfunction, giving rise to night blindness, which is followed by progressive rod and cone photoreceptor dystrophy, resulting in midperipheral vision loss, tunnel vision, and sometimes blindness. In contrast to RP, CORD is characterized by a primary loss of cone photoreceptors and subsequent or simultaneous loss of rod photoreceptors. The disease in most cases becomes apparent during primary-school years, and symptoms include photoaversion, decrease in visual acuity with or without nystagmus, color vision defects, and decreased sensitivity of the central visual field. Because rods are also involved, night blindness and peripheral vision loss can occur. The diagnosis of CORD is mainly based on electroretinogram (ERG) recordings, in which cone responses are more severely reduced than, or equally as reduced as rod responses (summary by Estrada-Cuzcano et al., 2012).

CONE-ROD DYSTROPHY 16; CORD16 Is also known as retinal dystrophy with early macular involvement

Related symptoms:

  • Nystagmus
  • Cataract
  • Visual impairment
  • Myopia
  • Blindness


SOURCES: OMIM MENDELIAN

More info about CONE-ROD DYSTROPHY 16; CORD16

Low match PORENCEPHALY-MICROCEPHALY-BILATERAL CONGENITAL CATARACT SYNDROME


Porencephaly-microcephaly-bilateral congenital cataract syndrome is a rare, genetic, central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Cataract
  • Cryptorchidism
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about PORENCEPHALY-MICROCEPHALY-BILATERAL CONGENITAL CATARACT SYNDROME

Low match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3


Autosomal dominant spastic paraplegia type 3 is a rare, pure or complex subtype of hereditary spastic paraplegia, with highly variable phenotype, typically characterized by childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness, associated with pes cavus, diminished vibration sense, sphincter disturbances and/or urinary bladder hyperactivity. Additional associated manifestations may include scoliosis, mild intellectual disability, optic atrophy, axonal motor neuropathy and/or distal amyotrophy.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3 Is also known as strÜmpell disease

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Growth delay
  • Cataract
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3

Low match SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5 Is also known as atd5|asphyxiating thoracic dystrophy 5

Related symptoms:

  • Growth delay
  • Cataract
  • Hypertension
  • Brachydactyly
  • Myopia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5

Low match HIDROTIC ECTODERMAL DYSPLASIA


Clouston syndrome (or hidrotic ectodermal dysplasia) is characterised by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis.

HIDROTIC ECTODERMAL DYSPLASIA Is also known as ectodermal dysplasia 2, clouston type|ectodermal dysplasia, hidrotic, 2, formerly|ectd2|clouston hidrotic ectodermal dysplasia|ectodermal dysplasia, hidrotic, autosomal dominant|clouston syndrome|hed2, formerly

Related symptoms:

  • Short stature
  • Strabismus
  • Cataract
  • Cognitive impairment
  • Abnormality of the dentition


SOURCES: ORPHANET OMIM MENDELIAN

More info about HIDROTIC ECTODERMAL DYSPLASIA

Low match LAURENCE-MOON SYNDROME


Laurence-Moon syndrome (LMS) is a very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about LAURENCE-MOON SYNDROME

Top 5 symptoms//phenotypes associated to Cataract and Polydactyly

Symptoms // Phenotype % cases
Obesity Uncommon - Between 30% and 50% cases
Finger syndactyly Uncommon - Between 30% and 50% cases
Hand polydactyly Uncommon - Between 30% and 50% cases
Alopecia Rare - less than 30% cases
Rod-cone dystrophy Rare - less than 30% cases
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Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Seizures Reduced visual acuity Retinal dystrophy Growth delay Ataxia Nystagmus Myopia Cystic renal dysplasia Photophobia Visual impairment Short stature Strabismus Postaxial polydactyly Abnormality of the kidney Cone/cone-rod dystrophy Brachydactyly Cryptorchidism Global developmental delay Microcephaly Cognitive impairment Intellectual disability Pes valgus Thin upper lip vermilion Hyperkeratosis Cleft lip Sparse hair Nail dystrophy Proteinuria Carious teeth Hypotrichosis Hyperhidrosis Palmoplantar keratoderma Ectodermal dysplasia Nail dysplasia Inguinal hernia Respiratory distress Respiratory tract infection Narrow chest Abnormality of the dentition Rhizomelia Elevated serum creatinine Short iliac bones Glomerulonephritis Fine hair Metaphyseal widening Short ribs Renal hypoplasia Thoracic dysplasia Limb undergrowth Full cheeks Chronic tubulointerstitial nephritis Short foot Oral cleft Stage 5 chronic kidney disease Small nail Palmoplantar hyperkeratosis Sparse scalp hair Epicanthus Hyperconvex nail Clubbing of toes Absent axillary hair Hidrotic ectodermal dysplasia Palmar hyperkeratosis Absent pubic hair Abnormality of nail color Sensorineural hearing impairment Renal insufficiency Abnormal nasolacrimal system morphology Abnormality of cardiovascular system morphology Brachycephaly Low-set, posteriorly rotated ears Iris coloboma Hypoplasia of penis Type II diabetes mellitus Bilateral single transverse palmar creases Displacement of the external urethral meatus Hypohidrotic ectodermal dysplasia Slow-growing hair Hyperpigmentation of the skin Generalized hyperpigmentation Sparse and thin eyebrow Skin ulcer Conjunctivitis Sparse eyelashes Congenital hepatic fibrosis Brittle hair Scaling skin Clubbing Irregular hyperpigmentation Alopecia totalis Blepharitis Fragile nails Fair hair Sparse axillary hair Clubbing of fingers Sparse pubic hair Onycholysis Thick nail Craniofacial hyperostosis Respiratory insufficiency Spastic gait Hypertension Nyctalopia Micropenis Intellectual disability, moderate Truncal obesity Childhood-onset truncal obesity Blindness Visual loss Pallor Retinal degeneration Abnormal facial shape Abnormality of skin pigmentation Progressive visual loss Optic disc pallor High myopia Hyperlipidemia Constriction of peripheral visual field Glucose intolerance Abnormality of color vision Delayed speech and language development Comedo Subcapsular cataract Epidermal acanthosis Scoliosis Scarring Papule Toe syndactyly Abnormality of the foot Ichthyosis Nevus Abnormal vertebral morphology Epidermal nevus Abnormality of the hair Spina bifida Spina bifida occulta Preaxial polydactyly Acne Hamartoma Pustule Nevus flammeus Macular atrophy Peripheral visual field loss Hyperesthesia Impaired vibratory sensation Hypogonadism Rigidity Bradykinesia Renal dysplasia Frequent falls Lower limb spasticity Abnormality of metabolism/homeostasis Toe walking Gait disturbance Urinary urgency Macular dystrophy Lower limb hyperreflexia Ankle clonus Distal lower limb amyotrophy Distal lower limb muscle weakness Lower limb hypertonia Hydrometrocolpos Babinski sign Dysarthria Attenuation of retinal blood vessels Edema Bone spicule pigmentation of the retina Chorioretinal degeneration Temporal optic disc pallor Beaten bronze macular sheen Spasticity Hyperreflexia Hepatomegaly Ventriculomegaly Dilatation Peripheral neuropathy Cerebellar hypoplasia Abnormality of the cerebral white matter Congenital cataract Cerebral calcification Progressive neurologic deterioration Postnatal microcephaly Ectopic kidney Motor delay Abnormality of the antitragus



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