Cataract, and Limb undergrowth

Diseases related with Cataract and Limb undergrowth

In the following list you will find some of the most common rare diseases related to Cataract and Limb undergrowth 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 ABSENCE DEFORMITY OF LEG-CATARACT SYNDROME


Absence deformity of leg ? cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed.

Related symptoms:

  • Scoliosis
  • Cataract
  • Visual impairment
  • Hyperlordosis
  • Paralysis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ABSENCE DEFORMITY OF LEG-CATARACT SYNDROME

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Other less relevant matches:

Low match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA


Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA Is also known as congenital spondyloepiphyseal dysplasia|spranger-wiedemann disease|sedc

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA

Low match DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROME


Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROME

Low match SEVERE INTELLECTUAL DISABILITY-EPILEPSY-CATARACT SYNDROME DUE TO FATTY ACYL-COA REDUCTASE 1 DEFICIENCY


Peroxisomal fatty acyl-CoA reductase-1 disorder is an autosomal recessive disorder characterized by onset in infancy of severely delayed psychomotor development, growth retardation with microcephaly, and seizures. Some patients may have congenital cataracts and develop spasticity later in childhood. Biochemical studies tend to show decreased plasmalogen, consistent with a peroxisomal defect. The disorder is reminiscent of rhizomelic chondrodysplasia punctata (see, e.g., RCDP1, {215100}), although the characteristic skeletal abnormalities observed in RCDP are absent (Buchert et al., 2014).

SEVERE INTELLECTUAL DISABILITY-EPILEPSY-CATARACT SYNDROME DUE TO FATTY ACYL-COA REDUCTASE 1 DEFICIENCY Is also known as severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder|severe intellectual disability-epilepsy-cataract syndrome due to far1 deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-EPILEPSY-CATARACT SYNDROME DUE TO FATTY ACYL-COA REDUCTASE 1 DEFICIENCY

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 BONE MARROW FAILURE SYNDROME 4; BMFS4


BMFS4 is an autosomal recessive disorder characterized by early-onset anemia, leukopenia, and decreased B cells, resulting in the necessity for red cell transfusion and sometimes causing an increased susceptibility to infection. Some patients may have thrombocytopenia or variable additional nonhematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay. Bone marrow transplantation is curative (summary by Bahrami et al., 2017).For a discussion of genetic heterogeneity of BMFS, see BMFS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about BONE MARROW FAILURE SYNDROME 4; BMFS4

Low match COLOBOMATOUS MICROPHTHALMIA-RHIZOMELIC DYSPLASIA SYNDROME


Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.

COLOBOMATOUS MICROPHTHALMIA-RHIZOMELIC DYSPLASIA SYNDROME Is also known as microphthalmia or coloboma with or without rhizomelic skeletal dysplasia|microphthalmia, syndromic 14|microphthalmia-coloboma-rhizomelic skeletal dysplasia|mcops14

Related symptoms:

  • Intellectual disability
  • Nystagmus
  • Strabismus
  • Abnormal facial shape
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about COLOBOMATOUS MICROPHTHALMIA-RHIZOMELIC DYSPLASIA SYNDROME

Top 5 symptoms//phenotypes associated to Cataract and Limb undergrowth

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Rhizomelia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Myopia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cleft palate Hypertelorism Hearing impairment Scoliosis Abnormality of the skeletal system Abnormal facial shape Microcephaly

Rare Symptoms - Less than 30% cases


Flexion contracture Skeletal dysplasia Metaphyseal widening Cryptorchidism Thin upper lip vermilion Retinal detachment Cleft lip Growth delay Micromelia Oral cleft Narrow chest Seizures Hypospadias Kyphosis Hyperlordosis Nystagmus Congenital cataract Abnormality of epiphysis morphology Respiratory tract infection Neutropenia Epicanthus Elevated serum creatinine Thoracic dysplasia Pes valgus Short iliac bones Strabismus Noncompaction cardiomyopathy Chronic tubulointerstitial nephritis Agammaglobulinemia Low-set ears Upper limb undergrowth Neurodevelopmental delay Recurrent upper respiratory tract infections Anemia Cardiomyopathy Leukopenia Recurrent infections Lymphopenia Gingival overgrowth Midface retrusion Choanal atresia Thrombocytopenia Macrocephaly Dry skin Eczema Long eyelashes Syndactyly Retrognathia Motor delay Intrauterine growth retardation Ventricular septal defect Micropenis Gait ataxia Autism Astigmatism High palate Hypotelorism Coxa valga Accelerated skeletal maturation Scrotal hypoplasia 2-3 toe syndactyly Scaphocephaly Obstructive sleep apnea Feeding difficulties Micrognathia Microphthalmia Knee flexion contracture Pes cavus Prominent forehead Pes planus Intellectual disability, moderate Coloboma Microcornea Deep philtrum Failure to thrive Precocious puberty Chorioretinal coloboma Anophthalmia Sclerocornea Ectopia pupillae Periorbital fullness Monocular strabismus Glomerulonephritis Progressive spastic quadriplegia Short ribs Platyspondyly Mental deterioration Kyphoscoliosis High forehead Immunodeficiency Intellectual disability, mild Dystonia Blindness Dysphagia Sensorineural hearing impairment Short thorax Coxa vara Osteoarthritis Limitation of joint mobility Flat face Broad forehead Cleft upper lip Glaucoma Short neck Talipes equinovarus Duplication involving bones of the feet Progressive cataract Optic nerve dysplasia Lower limb undergrowth Abnormality of femur morphology Abnormality of the lower limb Spondyloepiphyseal dysplasia Cranial nerve paralysis Anal atresia Paralysis Visual impairment Small for gestational age Neurodegeneration Renal hypoplasia Highly arched eyebrow Full cheeks Short foot Stage 5 chronic kidney disease Proteinuria Polydactyly Inguinal hernia Respiratory distress Respiratory insufficiency Brachydactyly Hypertension Abnormality of metabolism/homeostasis Spastic tetraparesis Tetraparesis Smooth philtrum Macroglossia Generalized hypotonia Generalized dystonia Mild global developmental delay Hypoplastic scapulae Bulbar signs Achalasia Externally rotated hips Spasticity Neonatal hypotonia Ptosis Cerebellar atrophy Short nose Long philtrum Macrotia Coarse facial features Broad femoral neck



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