Cryptorchidism, and Congenital cataract
Diseases related with Cryptorchidism and Congenital cataract
In the following list you will find some of the most common rare diseases related to Cryptorchidism and Congenital cataract that can help you solving undiagnosed cases.
Top matches:
High 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
More info about MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB3
High 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 SYNDROMEHigh 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
More info about WARBURG MICRO SYNDROME 2; WARBM2
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Other less relevant matches:
High match DPAGT1-CDG
DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3).
DPAGT1-CDG Is also known as cdg syndrome type ij|cdg-ij|congenital disorder of glycosylation type 1j|cdgij|cdg1j|carbohydrate deficient glycoprotein syndrome type ij|cdg ij|dolichyl-phosphate n-acetylgalactosamine phosphotransferase deficiency|congenital disorder of glycosylation ty
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
SOURCES: MESH ORPHANET OMIM MENDELIAN
More info about DPAGT1-CDGHigh match HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC
HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC Is also known as hyperferritinemia-cataract syndrome|hyperferritinemia, hereditary, with congenital cataracts|hhcs
Related symptoms:
- Intellectual disability
- Short stature
- Hearing impairment
- Microcephaly
- Hypertelorism
More info about HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC
High match SPONDYLO-OCULAR SYNDROME
Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.
Related symptoms:
- Intellectual disability
- Short stature
- Generalized hypotonia
- Hearing impairment
- Hypertelorism
SOURCES: ORPHANET OMIM MENDELIAN
More info about SPONDYLO-OCULAR SYNDROMEHigh match MICRO SYNDROME
Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.
MICRO SYNDROME Is also known as warbm|warburg micro syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES: OMIM ORPHANET MENDELIAN
More info about MICRO SYNDROMEHigh match WALKER-WARBURG SYNDROME
Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.
WALKER-WARBURG SYNDROME Is also known as hard syndrome|cerebroocular dysplasia-muscular dystrophy syndrome|hydrocephalus, agyria, and retinal dysplasia|walker-warburg syndrome or muscle-eye-brain disease, pomt1-related|wws|hydrocephalus-agyria-retinal dysplasia syndrome|cod-md syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
SOURCES: ORPHANET OMIM MENDELIAN
More info about WALKER-WARBURG SYNDROMEHigh match CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1
Cerebrooculofacioskeletal syndrome is an autosomal recessive progressive neurodegenerative disorder characterized by microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis (summary by Jaakkola et al., 2010).
CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1 Is also known as cofs syndrome|cofs|pena-shokeir syndrome, type ii
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
SOURCES: ORPHANET OMIM MENDELIAN
More info about CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1High match WARBURG MICRO SYNDROME 1; WARBM1
Warburg Micro syndrome is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism (summary by Morris-Rosendahl et al., 2010).
WARBURG MICRO SYNDROME 1; WARBM1 Is also known as micro syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about WARBURG MICRO SYNDROME 1; WARBM1
Top 5 symptoms//phenotypes associated to Cryptorchidism and Congenital cataract
| Symptoms // Phenotype | % cases |
|---|---|
| Cataract | Very Common - Between 80% and 100% cases |
| Intellectual disability | Common - Between 50% and 80% cases |
| Global developmental delay | Common - Between 50% and 80% cases |
| Microcephaly | Common - Between 50% and 80% cases |
| Microphthalmia | Common - Between 50% and 80% cases |
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Other less frequent symptoms
Patients with Cryptorchidism and Congenital cataract. may also develop some of the following symptoms:
Common Symptoms - More than 50% cases
Seizures
Uncommon Symptoms - Between 30% and 50% cases
Generalized hypotonia
Common Symptoms - More than 50% cases
Flexion contracture
Uncommon Symptoms - Between 30% and 50% cases
Microcornea Muscular hypotonia Macrotia Intellectual disability, severe Hypoplasia of the corpus callosum Micrognathia Short stature Postnatal microcephaly Polymicrogyria Muscular hypotonia of the trunk Optic atrophy Visual impairment Hyperreflexia Spasticity Ventriculomegaly Cerebellar hypoplasia Long philtrum Nystagmus Growth delay Retinal detachment Hypertonia Osteoporosis Posteriorly rotated ears Agenesis of corpus callosum Deeply set eye Abnormal facial shape Muscle weakness Hypoplasia of penis Intrauterine growth retardation Coloboma Hearing impairment Hypertelorism Myopia Kyphosis Glaucoma Severe global developmental delay Micropenis Spastic diplegia Wide nasal bridge Brachycephaly Pachygyria
Rare Symptoms - Less than 30% cases
Hydronephrosis Sensorineural hearing impairment Cortical dysplasia Convex nasal ridge Webbed neck Anal atresia Low-set, posteriorly rotated ears Joint stiffness Short neck Congenital muscular dystrophy Intellectual disability, profound Muscular dystrophy Corneal opacity Retinal coloboma Lissencephaly Failure to thrive Low-set ears Narrow mouth Kyphoscoliosis Cerebral visual impairment Thin vermilion border Hyperextensible skin High palate Cerebellar atrophy Hypogonadism Delayed myelination Cerebellar vermis hypoplasia Hirsutism Arthrogryposis multiplex congenita Cerebral cortical atrophy Tetraplegia Ptosis Cleft palate Short nose Dilatation Cerebral atrophy Anemia Strabismus Clinodactyly of the 5th finger Overlapping toe Low anterior hairline Prominent nasal bridge Scrotal hypoplasia Abnormality of the cerebral white matter Cerebral calcification Cerebellar dysplasia Retinal dysplasia Microtia Abnormal cortical gyration Abnormality of the optic nerve Buphthalmos Aqueductal stenosis Peters anomaly Muscle fiber splitting Type II lissencephaly Megalocornea Cerebellar cyst Agyria Retinopathy Protruding ear Excessive daytime sleepiness Remnants of the hyaloid vascular system Posterior fossa cyst Meningoencephalocele Hypoglycosylation of alpha-dystroglycan Abnormal levels of creatine kinase in blood Bilateral cleft lip Bifid uvula Dandy-Walker malformation Polydactyly Specific learning disability Abnormality of the kidney Encephalocele Heterotopia Renal dysplasia Severe muscular hypotonia Retinal dystrophy Optic nerve hypoplasia Atresia of the external auditory canal Congenital contracture Anophthalmia Retinal atrophy Hypoplasia of the brainstem Iris coloboma Oral cleft Abnormality of neuronal migration Congenital glaucoma Metatarsus valgus Absent septum pellucidum Cleft upper lip Occipital encephalocele Submucous cleft hard palate Abnormality of the cerebellar vermis Macrogyria Severe hydrocephalus Hypertrichosis Second metatarsal posteriorly placed Motor delay Epicanthus Severe short stature Upslanted palpebral fissure Retrognathia Neonatal hypotonia Joint hypermobility Brain atrophy Short palpebral fissure Tetraparesis Progressive muscle weakness Long ear Spastic tetraparesis Cerebral palsy Bilateral cryptorchidism Neurodevelopmental delay External genital hypoplasia Enlarged cisterna magna Abnormal pupil morphology Anteverted ears Hyperglycinuria Posterior uveitis Posterior synechiae of the anterior chamber Facial hypertrichosis Deep longitudinal plantar crease Miosis Proptosis Lens luxation Abnormal lactate dehydrogenase activity Chorioretinal dysplasia Hypoplastic male external genitalia Aplasia/Hypoplasia involving the skeletal musculature Thick cerebral cortex Abnormal aldolase level Edema Camptodactyly Blepharophimosis Hepatomegaly Neurodegeneration Gliosis Prominent nose Osteopetrosis Wide intermamillary distance Neuronal loss in central nervous system Peripheral demyelination Sloping forehead Cutaneous photosensitivity Insulin resistance Joint contracture of the hand Elbow flexion contracture Coxa valga Knee flexion contracture Rocker bottom foot Abnormality of the ear Cleft lip Blindness Progressive neurologic deterioration Platyspondyly Atrial septal defect Aggressive behavior Elevated hepatic transaminase Depressivity Visual loss Jaundice Osteopenia Pes planus Hyperlordosis Abnormal cardiac septum morphology Pectus carinatum Joint hyperflexibility Apnea Unsteady gait Clinodactyly Mitral valve prolapse Lumbar hyperlordosis Low posterior hairline Decreased body weight Amblyopia Accelerated skeletal maturation Increased susceptibility to fractures Hemiplegia Preauricular pit Ventricular septal defect Poor speech Subcapsular cataract Bilateral single transverse palmar creases Downslanted palpebral fissures Type I transferrin isoform profile Abnormality of cardiovascular system morphology Photophobia Skin dimples Hypoproteinemia Inverted nipples Infantile spasms Finger clinodactyly Progressive microcephaly High myopia Abnormality of the fingernails Single transverse palmar crease Polycystic ovaries Hypoplastic toenails Non-midline cleft lip Microcytic anemia Iron deficiency anemia Increased serum ferritin Abnormality of the elbow Ectopic anus Nuclear cataract Pulverulent cataract Exotropia Long fingers Iris hypopigmentation Elevated serum creatine phosphokinase Upper limb spasticity Abnormality of retinal pigmentation Postnatal growth retardation Generalized hirsutism Absent speech Aplasia/Hypoplasia of the corpus callosum Decreased muscle mass Cerebellar vermis atrophy Abnormality of visual evoked potentials Severe postnatal growth retardation Cystic renal dysplasia Abnormal localization of kidney Clitoral hypoplasia Decreased testicular size Hypoplastic labia minora Frontoparietal polymicrogyria Ectopic kidney Skeletal muscle atrophy Macrocephaly Frontal bossing Hydrocephalus Reduced antithrombin III activity Myopathy Areflexia Hyporeflexia Spastic tetraplegia Abnormal cerebellum morphology Thoracic kyphosis Aplasia/Hypoplasia of the lens Posterior subcapsular cataract Abnormal eyebrow morphology Abnormality of the antihelix Facial hypotonia Vertebral compression fractures Disproportionate short-trunk short stature Thickened helices Shield chest Unilateral cryptorchidism Long toe Abnormality of the intervertebral disk Dysplastic aortic valve Delayed puberty Left hemiplegia Scoliosis Respiratory insufficiency Tremor Peripheral neuropathy Anteverted nares Feeding difficulties Undetectable visual evoked potentials Asymmetry of the ears Hypoplastic labia majora Global brain atrophy Short philtrum Microphakia
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