Cataract, and Cryptorchidism

Diseases related with Cataract and Cryptorchidism

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


Top matches:

Low match MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB3


MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB3 Is also known as microphthalmia, colobomatous, isolated 3

Related symptoms:

  • Cataract
  • Cryptorchidism
  • Microphthalmia
  • Coloboma
  • Congenital cataract


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB3

Low match HYPOSMIA-NASAL AND OCULAR HYPOPLASIA-HYPOGONADOTROPIC HYPOGONADISM SYNDROME


This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.

HYPOSMIA-NASAL AND OCULAR HYPOPLASIA-HYPOGONADOTROPIC HYPOGONADISM SYNDROME Is also known as bosma arhinia-microphthalmia syndrome|bosma-henkin-christiansen syndrome

Related symptoms:

  • Cleft palate
  • Cataract
  • Cryptorchidism
  • Blindness
  • Microphthalmia


SOURCES: ORPHANET MENDELIAN

More info about HYPOSMIA-NASAL AND OCULAR HYPOPLASIA-HYPOGONADOTROPIC HYPOGONADISM SYNDROME

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

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Other less relevant matches:

Low match SQUALENE SYNTHASE DEFICIENCY; SQSD


Squalene synthase deficiency is an autosomal recessive disorder characterized by profound developmental delay, brain abnormalities, 2/3 syndactyly of the toes, and facial dysmorphisms, as well as low total and LDL-cholesterol and abnormal urine organic acids (Coman et al., 2018). Squalene synthase deficiency has been reported in 3 patients from 2 families.

SQUALENE SYNTHASE DEFICIENCY; SQSD Is also known as neurodevelopmental disorder with low cholesterol and abnormal urine organic acids

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Micrognathia
  • Cataract


SOURCES: OMIM MENDELIAN

More info about SQUALENE SYNTHASE DEFICIENCY; SQSD

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

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 WARBURG MICRO SYNDROME 2; WARBM2


WARBURG MICRO SYNDROME 2; WARBM2 Is also known as micro syndrome 2

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Cataract
  • Cryptorchidism
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about WARBURG MICRO SYNDROME 2; WARBM2

Low match STEINERT MYOTONIC DYSTROPHY


Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness.

STEINERT MYOTONIC DYSTROPHY Is also known as dm1|md1|myotonic dystrophy type 1|steinert disease

Related symptoms:

  • Strabismus
  • Muscular hypotonia
  • Cataract
  • Cryptorchidism
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about STEINERT MYOTONIC DYSTROPHY

Low match GORLIN SYNDROME


Gorlin syndrome (GS) is a genodermatosis characterized by multiple early-onset basal cell carcinoma (BCC), odontogenic keratocysts and skeletal abnormalities.

GORLIN SYNDROME Is also known as nbccs|basal cell nevus syndrome|nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Neoplasm
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about GORLIN SYNDROME

Top 5 symptoms//phenotypes associated to Cataract and Cryptorchidism

Symptoms // Phenotype % cases
Global developmental delay Uncommon - Between 30% and 50% cases
Epicanthus Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Strabismus Uncommon - Between 30% and 50% cases
Microphthalmia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Microcornea Iris coloboma Seizures Hypospadias Congenital cataract Brachycephaly

Rare Symptoms - Less than 30% cases


Macrotia Intellectual disability, severe Microcephaly Failure to thrive Micrognathia Hydrocephalus Hypoplasia of the corpus callosum Syndactyly Rhizomelia Retrognathia Scrotal hypoplasia Low-set, posteriorly rotated ears Polymicrogyria Micropenis Short stature Nystagmus Cerebral calcification Brachydactyly Abnormality of cardiovascular system morphology Postnatal microcephaly Flexion contracture Anophthalmia Hypoplasia of penis Coloboma Retinal detachment Cleft palate Abnormal hair quantity First degree atrioventricular block Abnormality of the upper urinary tract Testicular atrophy Abnormality of the endocrine system Hernia of the abdominal wall Non-midline cleft lip Mask-like facies Myotonia Intellectual disability, progressive EMG abnormality Hip dislocation Facial palsy Hypertonia Hepatomegaly Skeletal muscle atrophy Muscular hypotonia Undetectable visual evoked potentials Asymmetry of the ears Hypoplastic labia majora Global brain atrophy Spastic diplegia Overlapping toe Low anterior hairline Severe global developmental delay Prominent nasal bridge Postnatal growth retardation Muscular hypotonia of the trunk Lens luxation Absent speech Respiratory distress Hypertelorism Scoliosis Astigmatism Motor delay Myopia Intrauterine growth retardation Ventricular septal defect Gait ataxia Autism Hypotelorism High palate Coxa valga Accelerated skeletal maturation Metaphyseal widening 2-3 toe syndactyly Scaphocephaly Obstructive sleep apnea Feeding difficulties Plantar pits Neoplasm Arachnodactyly Wide nasal bridge Frontal bossing Glaucoma Mandibular prognathia Telecanthus Carious teeth Hypogonadotrophic hypogonadism Palmar pits Hemivertebrae Melanocytic nevus Vertebral fusion Abnormality of the neck Abnormality of the sense of smell Vertebral wedging Short nose Blindness Optic atrophy Single naris Optic nerve hypoplasia Bicuspid aortic valve Cerebral visual impairment Cutaneous photosensitivity External genital hypoplasia Dry skin Toe syndactyly Irritability Submucous cleft hard palate Misalignment of teeth Hyposmia Posteriorly rotated ears Abdominal wall muscle weakness Failure of eruption of permanent teeth Absent nares Profound global developmental delay Hyperreflexia Edema Dilatation Cerebellar hypoplasia Polydactyly Abnormality of the kidney Abnormality of the cerebral white matter Progressive neurologic deterioration Depressed nasal bridge Spasticity Ectopic kidney Cystic renal dysplasia Hypoplasia of the olfactory bulb Abnormality of the midface Visual impairment Bilateral cryptorchidism Anosmia Ventriculomegaly Knee flexion contracture Prominent forehead Skeletal dysplasia Pes planus Intellectual disability, moderate Long eyelashes Visual loss Deep philtrum Macrocephaly Precocious puberty Chorioretinal coloboma Sclerocornea Ectopia pupillae Periorbital fullness Monocular strabismus Pes cavus Inguinal hernia Ataxia Hypogonadism Gynecomastia Amblyopia Sensorineural hearing impairment Renal insufficiency Bifid uvula Obesity Finger syndactyly Abnormal facial shape Type II diabetes mellitus Bilateral single transverse palmar creases Hand polydactyly Congenital hepatic fibrosis Displacement of the external urethral meatus Abnormality of the antitragus Broad femoral neck



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