Cataract, and Rhizomelia

Diseases related with Cataract and Rhizomelia

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


Top matches:

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

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Other less relevant matches:

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

Low match PEROXISOME BIOGENESIS DISORDER 9B; PBD9B


While most patients of PBD complementation group 11 manifest rhizomelic chondrodysplasia punctata (RCDP1 ), a few have been reported with unusually mild phenotypes with longer survival, less neurologic involvement, normal or near-normal growth, and absence of rhizomelia (Braverman et al., 2002). In some cases this phenotype was indistinguishable from that of classic Refsum disease (OMIM ) and patients carried this diagnosis.Individuals with PBDs of complementation group 11 (CG11, equivalent to CGR) have mutations in the PEX7 gene. For information on the history of PBD complementation groups, see {214100}.

PEROXISOME BIOGENESIS DISORDER 9B; PBD9B Is also known as refsum disease, adult, 2|peroxisome biogenesis disorder, pex7-related, atypical

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 9B; PBD9B

Low match RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2


Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 (OMIM ) is the most frequent form of RCDP (summary by Wanders and Waterham, 2005). Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP2 is classified as a single peroxisome enzyme deficiency (Waterham and Ebberink, 2012).For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see {215100}.

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2 Is also known as chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate acyltransferase deficiency|gnpat deficiency|dihydroxyacetonephosphate acyltransferase deficiency|peroxisomal dihydroxyacetonephosphate acyltransferase deficiency|dhapat deficiency|gly

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2

Low match BLOMSTRAND LETHAL CHONDRODYSPLASIA


Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia (see this term) characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality.

BLOMSTRAND LETHAL CHONDRODYSPLASIA Is also known as blomstrand chondrodysplasia|blomstrand osteochondrodysplasia|chondrodysplasia, blomstrand type|bocd|blc

Related symptoms:

  • Micrognathia
  • Cataract
  • Low-set ears
  • Depressed nasal bridge
  • Anteverted nares


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BLOMSTRAND LETHAL CHONDRODYSPLASIA

Low match KNIEST DYSPLASIA


Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia
  • Cleft palate


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about KNIEST DYSPLASIA

Low match FIBROCHONDROGENESIS


Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about FIBROCHONDROGENESIS

Top 5 symptoms//phenotypes associated to Cataract and Rhizomelia

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Skeletal dysplasia Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
Flexion contracture Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Short nose Global developmental delay Depressed nasal bridge Microcephaly Hearing impairment Myopia Seizures Short ribs Narrow chest Limb undergrowth Cleft palate Severe short stature Low-set ears Anteverted nares Midface retrusion Congenital cataract Micromelia Platyspondyly Proptosis Abnormal facial shape Malar flattening Growth delay Long philtrum Abnormality of the skeletal system

Rare Symptoms - Less than 30% cases


Failure to thrive Dumbbell-shaped long bone Hypospadias Retinal detachment Pes cavus Hydrops fetalis Syndactyly Macrocephaly Epicanthus Flared metaphysis Motor delay High palate Round face Protuberant abdomen Short thorax Scoliosis Calcific stippling Cryptorchidism Retinopathy High myopia Feeding difficulties Abnormality of the metaphysis Accelerated skeletal maturation Retrognathia Autism Bell-shaped thorax Metaphyseal cupping Short neck Abnormality of epiphysis morphology Recurrent infections Respiratory insufficiency Cardiomyopathy Metaphyseal widening Thin upper lip vermilion Respiratory tract infection Respiratory distress Inguinal hernia Brachydactyly Ptosis Spasticity Hypertelorism Generalized hypotonia Short foot Kyphosis Gait disturbance Pain Depressivity Glaucoma Umbilical hernia Joint contracture of the hand Conductive hearing impairment Hyperlordosis Joint stiffness Long clavicles Hip dislocation Osteoarthritis Recurrent otitis media Hypoplastic ischia Joint dislocation Laryngeal calcification Broad long bones Anterior rib cupping Broad ischia Increased bone mineral density Posterior vertebral hypoplasia Widely patent coronal suture Pear-shaped vertebrae Mesomelia Natal tooth Protruding tongue Generalized osteosclerosis Lethal skeletal dysplasia Aplastic clavicle Advanced tarsal ossification Neonatal short-limb short stature Synostosis of joints Posterior rib cupping Advanced ossification of carpal bones Thin clavicles Broad clavicles Narrow greater sacrosciatic notches Squared iliac bones Ectopia lentis Distal shortening of limbs Coxa vara Chorioretinal atrophy Neonatal respiratory distress Clinodactyly of the 5th finger Splayed epiphyses Bowing of the long bones Abnormal cartilage collagen Thoracic hypoplasia Downslanted palpebral fissures Hypoplastic toenails Patent foramen ovale Frontal bossing Short long bone Plagiocephaly Narrow mouth Lumbar kyphoscoliosis Camptodactyly Abnormality of the pinna Camptodactyly of finger Pectus carinatum Flat face Short palm Small hand Abnormality of the ribs Abnormal form of the vertebral bodies Omphalocele Thin ribs Fibular hypoplasia Spondyloepiphyseal dysplasia Hypoplastic fingernail Wide anterior fontanel Abnormal diaphysis morphology Arthropathy Hip contracture Tracheomalacia Broad ribs Glossoptosis Bifid tongue Vitreoretinopathy Delayed epiphyseal ossification Hypoplastic scapulae Rhegmatogenous retinal detachment Hearing abnormality Megalocornea Tracheal stenosis Hypoplastic pelvis Disproportionate short-trunk short stature Hypoplastic ilia Enlarged joints Coronal cleft vertebrae Enlarged thorax Lens luxation Flattened, squared-off epiphyses of tubular bones Short 5th metacarpal Coarctation of aorta Nystagmus Eczema Choanal atresia Gingival overgrowth Lymphopenia Leukopenia Recurrent upper respiratory tract infections Neurodevelopmental delay Upper limb undergrowth Agammaglobulinemia Noncompaction cardiomyopathy Strabismus Dry skin Microphthalmia Prominent forehead Pes planus Intellectual disability, moderate Coloboma Microcornea Long eyelashes Knee flexion contracture Deep philtrum Precocious puberty Chorioretinal coloboma Neutropenia Thrombocytopenia Sclerocornea Polydactyly Cerebellar atrophy Macrotia Coarse facial features Neonatal hypotonia Smooth philtrum Highly arched eyebrow Tetraparesis Spastic tetraparesis Progressive spastic quadriplegia Hypertension Proteinuria Anemia Cleft lip Stage 5 chronic kidney disease Oral cleft Full cheeks Renal hypoplasia Glomerulonephritis Elevated serum creatinine Thoracic dysplasia Pes valgus Short iliac bones Chronic tubulointerstitial nephritis Anophthalmia Ectopia pupillae Short metacarpal Large fontanelles Anosmia Hammertoe Distal lower limb amyotrophy Polyneuritis Elevated levels of phytanic acid Muscular hypotonia Wide nasal bridge Intellectual disability, severe High forehead Osteopenia Abnormality of pelvic girdle bone morphology Progressive visual loss Congenital contracture Short humerus Epiphyseal stippling Irregular vertebral endplates Limb joint contracture Stippled calcification proximal humeral epiphyses Edema Polyhydramnios Telecanthus Pulmonary hypoplasia Premature birth Sensorimotor neuropathy Polyneuropathy Periorbital fullness Obstructive sleep apnea Monocular strabismus Intrauterine growth retardation Ventricular septal defect Micropenis Gait ataxia Astigmatism Hypotelorism Coxa valga Scrotal hypoplasia 2-3 toe syndactyly Scaphocephaly Broad femoral neck Ichthyosis Ataxia Sensorineural hearing impairment Cognitive impairment Peripheral neuropathy Blindness Congestive heart failure Visual loss Arrhythmia Rod-cone dystrophy Autistic behavior Nyctalopia Widely patent sagittal suture



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Myopia and Sarcoma, related diseases and genetic alterations Lymphoma and Microcornea, related diseases and genetic alterations Epicanthus and Arrhythmia, related diseases and genetic alterations Obesity and Hypermetropia, related diseases and genetic alterations Failure to thrive and Choanal atresia, related diseases and genetic alterations

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