Cataract, and Polyhydramnios

Diseases related with Cataract and Polyhydramnios

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


Top matches:

Medium match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12; MDDGA12


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as dystroglycanopathies (summary by Stevens et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12; MDDGA12 Is also known as walker-warburg syndrome or muscle-eye-brain disease, pomk-related

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12; MDDGA12

Medium match TETRAAMELIA-MULTIPLE MALFORMATIONS SYNDROME


Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.

TETRAAMELIA-MULTIPLE MALFORMATIONS SYNDROME Is also known as zimmer phocomelia

Related symptoms:

  • Micrognathia
  • Cataract
  • Cryptorchidism
  • Optic atrophy
  • Hydrocephalus


SOURCES: ORPHANET MENDELIAN

More info about TETRAAMELIA-MULTIPLE MALFORMATIONS SYNDROME

Medium 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

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Other less relevant matches:

Medium match MYOTONIC DYSTROPHY 1; DM1


Myotonic dystrophy is an autosomal dominant disorder characterized mainly by myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, and ECG changes. The genetic defect in DM1 results from an amplified trinucleotide repeat in the 3-prime untranslated region of a protein kinase gene. Disease severity varies with the number of repeats: normal individuals have 5 to 37 repeats, mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with congenital onset can have more than 2,000 repeats. The disorder shows genetic anticipation, with expansion of the repeat number dependent on the sex of the transmitting parent. Alleles of 40 to 80 repeats are usually expanded when transmitted by males, whereas only alleles longer than 80 repeats tend to expand in maternal transmissions. Repeat contraction events occur 4.2 to 6.4% of the time (Musova et al., 2009). Genetic Heterogeneity of Myotonic DystrophySee also myotonic dystrophy-2 (DM2 ), which is caused by mutation in the ZNF9 gene (OMIM ) on chromosome 3q21.

MYOTONIC DYSTROPHY 1; DM1 Is also known as dystrophia myotonica 1|dystrophia myotonica|steinert disease|dm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about MYOTONIC DYSTROPHY 1; DM1

Medium match HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6


Hyperphosphatasia with mental retardation syndrome-6 (HPMRS6) is an autosomal recessive multisystem disorder characterized by global developmental delay, dysmorphic features, seizures, and congenital cataracts. Severity is variable, and the disorder may show a range of phenotypic and biochemical abnormalities, including increased serum alkaline phosphatase levels (summary by Ilkovski et al., 2015). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (OMIM ).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6 Is also known as gpibd12|glycosylphosphatidylinositol biosynthesis defect 12

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6

Medium match MEND SYNDROME


MEND syndrome is a rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypopigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated.

MEND SYNDROME Is also known as male ebp disorder with neurologic defects|male ebp disorder with neurological defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MEND SYNDROME

Medium match MILLER-DIEKER SYNDROME


Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition.

MILLER-DIEKER SYNDROME Is also known as monosomy 17p13.3|lissencephaly due to 17p13.3 deletion|mds|telomeric deletion 17p

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MILLER-DIEKER SYNDROME

Medium match X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA


X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.

X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA Is also known as x-linked chondrodysplasia punctata type 2|cpxd|cdpxd|conradi-hunermann-happle syndrome|happle syndrome|conradi-hunermann syndrome|cdpx2|chondrodystrophia calcificans congenita|conradi-h√únermann-happle syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA

Medium match NEU-LAXOVA SYNDROME


Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.

NEU-LAXOVA SYNDROME Is also known as neu-laxova syndrome|3-phosphoglycerate dehydrogenase deficiency, neonatal form|nls

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEU-LAXOVA SYNDROME

Medium match D-BIFUNCTIONAL PROTEIN DEFICIENCY


D-bifunctional protein deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also peroxisomal acyl-CoA oxidase deficiency (OMIM ), caused by mutation in the ACOX1 gene (OMIM ) on chromosome 17q25. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including X-linked adrenoleukodystrophy (ALD ), Zellweger cerebrohepatorenal syndrome (see {214100}) and neonatal adrenoleukodystrophy (NALD; see {601539}) (Watkins et al., 1995).DBP deficiency has been classified into 3 subtypes depending upon the deficient enzyme activity. Type I is a deficiency of both 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase; type II is a deficiency of hydratase activity alone; and type III is a deficiency of dehydrogenase activity alone. Virtually all patients with types I, II, and III have a severe phenotype characterized by infantile-onset of hypotonia, seizures, and abnormal facial features, and most die before age 2 years. McMillan et al. (2012) proposed a type IV deficiency on the basis of less severe features; these patients have a phenotype reminiscent of Perrault syndrome (PRLTS1 ). Pierce et al. (2010) noted that Perrault syndrome and DBP deficiency overlap clinically and suggested that DBP deficiency may be underdiagnosed.

D-BIFUNCTIONAL PROTEIN DEFICIENCY Is also known as peroxisomal bifunctional enzyme deficiency|dbp deficiency|17-beta-hydroxysteroid dehydrogenase iv deficiency|pbfe deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about D-BIFUNCTIONAL PROTEIN DEFICIENCY

Top 5 symptoms//phenotypes associated to Cataract and Polyhydramnios

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Agenesis of corpus callosum Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cryptorchidism Intellectual disability Microcephaly Global developmental delay Edema Low-set ears Ventriculomegaly Limb undergrowth Microphthalmia High palate Failure to thrive Flexion contracture Polydactyly Cleft palate Abnormality of the skeletal system Hypoplasia of the corpus callosum Ichthyosis Narrow forehead Clinodactyly Depressed nasal bridge Anteverted nares Skeletal dysplasia Osteopenia Hypertelorism Short neck Growth delay Decreased fetal movement Talipes Cerebral cortical atrophy Dilatation Skeletal muscle atrophy Dandy-Walker malformation Optic atrophy Abnormal facial shape Lissencephaly Hearing impairment Macrocephaly Hydrocephalus Talipes equinovarus Neonatal hypotonia Muscular dystrophy Pachygyria Ptosis Epicanthus Frontal bossing

Rare Symptoms - Less than 30% cases


Deeply set eye Thick vermilion border Abnormality of neuronal migration Hyperactivity Inguinal hernia Prominent occiput Nystagmus Single transverse palmar crease Strabismus Esotropia Abnormality of cardiovascular system morphology Kyphosis Abnormality of the pinna Feeding difficulties in infancy Retrognathia Hypogonadism Polymicrogyria Dysphagia Sacral dimple Motor delay Delayed speech and language development Muscular hypotonia of the trunk Bulbous nose Wide mouth High forehead Toe syndactyly Abnormal cardiac septum morphology Clinodactyly of the 5th finger Posteriorly rotated ears Midface retrusion Syndactyly Congestive heart failure Upslanted palpebral fissure Ventricular septal defect Camptodactyly Joint contracture of the hand Postnatal growth retardation Short stature Enterocolitis 2-3 toe syndactyly Aspiration Flat face Epiphyseal stippling Downslanted palpebral fissures Heterotopia Intrauterine growth retardation Hip dysplasia Wide nose Severe global developmental delay Feeding difficulties Rhizomelia Hydrops fetalis Abnormality of epiphysis morphology Premature birth Pulmonary hypoplasia Micromelia Elevated serum creatine phosphokinase Cerebellar hypoplasia Muscle weakness Tracheal stenosis Proptosis Malar flattening Long philtrum Sensorineural hearing impairment Poor speech Agyria Glaucoma Microcornea Short nose Tracheal calcification Hemiatrophy Scarring alopecia of scalp Butterfly vertebrae Vertebral wedging Elevated 8-dehydrocholesterol Abnormality of hair texture Patchy alopecia Dry hair Elevated 8(9)-cholestenol Concave nasal ridge Hyperkeratosis with erythema Punctate vertebral calcifications Osteoporosis Tarsal stippling Everted lower lip vermilion Cerebral calcification Renal agenesis Abnormality of the skin Ectodermal dysplasia Bifid uvula Muscle cramps Cleft upper lip Stippled calcification in carpal bones Arthrogryposis multiplex congenita Finger syndactyly Cleft lip Macrotia Foot polydactyly Patent ductus arteriosus Patellar dislocation Abnormality of the thorax Congenital ichthyosiform erythroderma Cavum septum pellucidum Abnormality of the dentition Bitemporal hollowing Midline brain calcifications Type I lissencephaly Abnormality of upper lip Pelvic kidney Decerebrate rigidity Recurrent aspiration pneumonia Deep palmar crease Depressivity Thick upper lip vermilion Duodenal atresia Premature skin wrinkling Infantile spasms Progressive spastic paraplegia Spastic diplegia Reduced visual acuity Deep philtrum Infantile muscular hypotonia Myopia Alopecia Aplasia/Hypoplasia of the skin Joint dislocation Bilateral talipes equinovarus Erythroderma Ambiguous genitalia Scaling skin Coarse hair Abnormality of pelvic girdle bone morphology Sparse eyelashes Abnormality of the fingernails Hemivertebrae Hyperkeratosis Sparse and thin eyebrow Abnormal vertebral morphology Postaxial polydactyly Sparse hair Erythema Intellectual disability, moderate Abnormality of the nervous system Hydronephrosis Kyphoscoliosis Sloping forehead Protuberant abdomen Thick lower lip vermilion Hepatic steatosis Cholestasis Split hand Peripheral demyelination Progressive visual loss Gliosis Abdominal distention Ascites Renal cyst Abnormality of the cerebral white matter Progressive hearing impairment Dolichocephaly Abnormality of the liver Elevated hepatic transaminase Pneumonia Delayed skeletal maturation Visual loss Pectus excavatum Hypospadias Large fontanelles Decreased nerve conduction velocity Hepatomegaly Undetectable electroretinogram Calcific stippling Fetal ascites Renal cortical microcysts Chylous ascites Cerebral hypoplasia Cerebral dysmyelination Bile duct proliferation Corpus callosum atrophy Aspiration pneumonia Hammertoe Adrenal hypoplasia Scaphocephaly Primary adrenal insufficiency Cortical dysplasia Thoracic hypoplasia Delayed cranial suture closure Decreased muscle mass Aplasia/Hypoplasia of the cerebellum Cerebellar atrophy Visual impairment Depressed nasal ridge Bilateral cryptorchidism Severe intrauterine growth retardation Abnormal eyelash morphology Submucous cleft hard palate Osteomalacia Transposition of the great arteries Absent septum pellucidum External genital hypoplasia Opisthotonus Rocker bottom foot Absent eyelashes Radial deviation of finger Large hands Ectropion Rickets Coloboma Pterygium Spina bifida Abnormality of the hair Abnormality of the mouth Broad foot Yellow subcutaneous tissue covered by thin, scaly skin Macrogyria Type III lissencephaly Abnormality of limbs Ablepharon Short umbilical cord Small placenta Aplasia/Hypoplasia involving the skeletal musculature Choroid plexus cyst Bifid uterus Abnormality of the cerebellar vermis Abnormal eyelid morphology Abnormal nasolacrimal system morphology Abnormality of the philtrum Calcaneovalgus deformity Hydranencephaly Abnormality of nervous system morphology Generalized edema Lack of skin elasticity Abnormal cortical gyration Trismus Patent foramen ovale Retinal degeneration Spastic gait Centrally nucleated skeletal muscle fibers Testicular atrophy Atrial flutter Nonimmune hydrops fetalis Facial diplegia Heart block Abnormal EKG Neurofibrillary tangles Thin ribs Frontal balding Alzheimer disease Myotonia Cholelithiasis Atrioventricular block Ventricular tachycardia Intellectual disability, progressive Spontaneous abortion Cardiac arrest First degree atrioventricular block Excessive daytime sleepiness Progressive muscle weakness Telecanthus Aplasia/Hypoplasia involving the nose Cerebral visual impairment Abnormal lung morphology Tetraamelia Aplasia/Hypoplasia involving the pelvis Congenital cataract Respiratory tract infection Developmental regression Abdominal pain Narcolepsy Platyspondyly Narrow chest Vomiting Short metacarpal Coarctation of aorta Ring fibers Percussion myotonia Obsessive-compulsive trait Insulin resistance Atrial fibrillation Knee flexion contracture Advanced tarsal ossification Mesomelia Cognitive impairment Natal tooth Pain Muscular hypotonia Protruding tongue Laryngeal calcification Distal shortening of limbs Peripheral neuropathy Squared iliac bones Broad clavicles Advanced ossification of carpal bones Synostosis of joints Neonatal short-limb short stature Aplastic clavicle Metaphyseal cupping Lethal skeletal dysplasia Short thorax Flared metaphysis Bowing of the long bones Myalgia Mitral valve prolapse Brain atrophy Sensory neuropathy Tachycardia Unsteady gait Lower limb muscle weakness Stroke Mental deterioration Respiratory failure Accelerated skeletal maturation Increased bone mineral density Dementia Arrhythmia Short ribs Cerebral atrophy Myopathy Intellectual disability, severe Respiratory distress Elbow flexion contracture Disproportionate short-limb short stature Omphalocele Olivopontocerebellar hypoplasia CNS hypomyelination Wide nasal bridge Congenital muscular dystrophy Hypoplasia of the brainstem Neoplasm Occipital encephalocele Ataxia Hypoplastic aortic arch Arnold-Chiari malformation Spotty hypopigmentation Long neck Otosclerosis Overlapping fingers Narrow nose Hypoventilation Long fingers Broad hallux Poor head control Atrial septal defect Overlapping toe High myopia Abnormality of the cardiovascular system Delayed eruption of teeth Nephropathy Generalized osteosclerosis Thin vermilion border Paraplegia Spastic paraplegia Bilateral sensorineural hearing impairment EEG abnormality Respiratory insufficiency due to muscle weakness Thin upper lip vermilion Cerebellar vermis hypoplasia Brachycephaly Encephalocele Prominent forehead Progressive microcephaly Abnormal heart morphology Abnormality of metabolism/homeostasis Ectopic kidney Self-injurious behavior Elevated alkaline phosphatase Echogenic fetal bowel Hypertonia Aplasia/Hypoplasia of the lungs Missing ribs Brachydactyly Abnormality of the larynx Vaginal atresia Aplasia/Hypoplasia of the nipples EEG with multifocal slow activity Shortening of all distal phalanges of the fingers Multicystic kidney dysplasia Prominent nasal tip Abnormally ossified vertebrae Thickened helices Chronic lung disease Large earlobe Hip contracture Long palpebral fissure Septo-optic dysplasia Abnormal lung lobation Abnormality of the ribs Overfolded helix Cortical cataract Abnormally large globe Microretrognathia Narrow palpebral fissure Aortic valve stenosis Retinal coloboma Wide intermamillary distance Type II lissencephaly Hypopigmentation of the skin Narrow mouth Iris coloboma Long face Microtia Smooth philtrum Anal atresia Prominent nasal bridge Oral cleft Low-set, posteriorly rotated ears Aggressive behavior Generalized cerebral atrophy/hypoplasia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Neutropenia, related diseases and genetic alterations Microphthalmia and Hydronephrosis, related diseases and genetic alterations Motor delay and Severe short stature, related diseases and genetic alterations Skeletal muscle atrophy and Tall stature, related diseases and genetic alterations Cleft palate and EEG abnormality, related diseases and genetic alterations

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