Cryptorchidism, and Visual loss
Diseases related with Cryptorchidism and Visual loss
In the following list you will find some of the most common rare diseases related to Cryptorchidism and Visual loss that can help you solving undiagnosed cases.
Top matches:
Treacher Collins syndrome is a disorder of craniofacial development. The features include antimongoloid slant of the eyes, coloboma of the lid, micrognathia, microtia and other deformity of the ears, hypoplastic zygomatic arches, and macrostomia. Conductive hearing loss and cleft palate are often present (Dixon, 1996). Genetic Heterogeneity of Treacher Collins SyndromeTreacher Collins syndrome-2 (TCS2 ) is caused by mutation in the POLR1D gene (OMIM ) on chromosome 13q12. Treacher Collins syndrome-3 (TCS3 ) is caused by mutation in the POLR1C gene (OMIM ) on chromosome 6p21.
TREACHER COLLINS SYNDROME 1; TCS1 Is also known as mfd1|tcs|treacher collins syndrome|tcof|mandibulofacial dysostosis|treacher collins-franceschetti syndrome
Related symptoms:
- Intellectual disability
- Global developmental delay
- Hearing impairment
- Microcephaly
- Hypertelorism
SOURCES:
ORPHANET
OMIM
MENDELIAN
More info about TREACHER COLLINS SYNDROME 1; TCS1
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 SYNDROME
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Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.
THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME Is also known as thmd1|trma|thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness|rogers syndrome|thiamine-responsive myelodysplasia|thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type
Related symptoms:
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
- Microcephaly
SOURCES:
MESH
ORPHANET
OMIM
MENDELIAN
More info about THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME
Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss.
KID SYNDROME Is also known as ichthyosis hystrix rheydt type|keratitis-ichthyosis-deafness/hystrix-like ichthyosis-deafness syndrome|senter syndrome|kid/hid syndrome|kid syndrome, autosomal dominant
Related symptoms:
- Intellectual disability
- Short stature
- Hearing impairment
- Neoplasm
- Sensorineural hearing impairment
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about KID SYNDROME
Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.
NORRIE DISEASE Is also known as episkopi blindness|norrie-warburg disease|atrophia bulborum hereditaria
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Hearing impairment
- Microcephaly
SOURCES:
MESH
OMIM
ORPHANET
MENDELIAN
More info about NORRIE DISEASE
Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.
ISOLATED ANIRIDIA Is also known as an2, formerly|aniridia ii, formerly|an
Related symptoms:
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
- Microcephaly
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about ISOLATED ANIRIDIA
Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula.
ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME Is also known as aeg syndrome|anophthalmia, clinical, with associated anomalies|anophthalmia-esophageal-genital syndrome|microphthalmia and esophageal atresia syndrome|mcops3|syndromic microphthalmia type 3
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES:
ORPHANET
OMIM
MENDELIAN
More info about ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME
De Barsy syndrome, or autosomal recessive cutis laxa type III (ARCL3), is characterized by cutis laxa, a progeria-like appearance, and ophthalmologic abnormalities (summary by Kivuva et al., 2008).For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see {219100}. Genetic Heterogeneity of de Barsy SyndromeAlso see ARCL3B (OMIM ), caused by mutation in the PYCR1 gene (OMIM ) on chromosome 17q25.
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A Is also known as de barsy syndrome a|cutis laxa, corneal clouding, and mental retardation|progeroid syndrome of de barsy
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES:
OMIM
MENDELIAN
More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A
Townes-Brocks syndrome-1 (TBS1) is characterized by the triad of imperforate anus, dysplastic ears, and thumb malformations. Minor features of the condition include hearing loss, foot malformations, renal impairment with or without renal malformations, genitourinary malformations, and congenital heart disease (Webb et al., 2017). Genetic Heterogeneity of Townes-Brocks SyndromeTownes-Brocks syndrome-2 (TBS2 ) is caused by mutation in the DACT1 gene (OMIM ) on chromosome 14q23.
TOWNES-BROCKS SYNDROME 1; TBS1 Is also known as deafness, sensorineural, with imperforate anus and thumb anomalies|anus, imperforate, with hand, foot, and ear anomalies|renal-ear-anal-radial syndrome|rear syndrome
Related symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Hearing impairment
- Microcephaly
SOURCES:
OMIM
MENDELIAN
More info about TOWNES-BROCKS SYNDROME 1; TBS1
Top 5 symptoms//phenotypes associated to Cryptorchidism and Visual loss
Symptoms // Phenotype |
% cases |
Hearing impairment |
Very Common - Between 80% and 100% cases
|
Intellectual disability |
Common - Between 50% and 80% cases
|
Cataract |
Common - Between 50% and 80% cases
|
Global developmental delay |
Common - Between 50% and 80% cases
|
Microcephaly |
Common - Between 50% and 80% cases
|
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Other less frequent symptoms
Patients with Cryptorchidism and Visual loss. may also develop some of the following symptoms:
Common Symptoms - More than 50% cases
Microphthalmia
Uncommon Symptoms - Between 30% and 50% cases
Sensorineural hearing impairment
Common Symptoms - More than 50% cases
Short stature
Uncommon Symptoms - Between 30% and 50% cases
Ventricular septal defect
Nystagmus
Abnormal heart morphology
Hypertelorism
Coloboma
Hypoplasia of the corpus callosum
Seizures
Visual impairment
Macrotia
Blindness
Generalized hypotonia
Low-set ears
Atrial septal defect
Abnormal facial shape
Protruding ear
Spasticity
Kyphosis
Thin vermilion border
Posteriorly rotated ears
Opacification of the corneal stroma
Malar flattening
Growth delay
Muscular hypotonia
Retinal detachment
Congenital cataract
Diabetes mellitus
Anophthalmia
Agenesis of corpus callosum
Hypogonadism
Strabismus
Iris coloboma
Micrognathia
Pain
Amblyopia
Neoplasm
Rare Symptoms - Less than 30% cases
Midface retrusion
Hernia
Abnormal cardiac septum morphology
Elbow flexion contracture
Sparse hair
Osteoporosis
Myopia
Tracheoesophageal fistula
Fine hair
Abnormal vertebral morphology
Delayed skeletal maturation
Muscle weakness
Delayed eruption of teeth
Chorioretinal coloboma
Glaucoma
Umbilical hernia
Aplasia/Hypoplasia of the lens
Gastroesophageal reflux
Retinal degeneration
Redundant skin
Optic atrophy
Ataxia
Hypospadias
Patent ductus arteriosus
Scoliosis
Frontal bossing
Postnatal growth retardation
Failure to thrive
Bilateral sensorineural hearing impairment
Subcapsular cataract
Hyperreflexia
Preauricular pit
Hypertonia
Hyperextensible skin
Cleft palate
Optic nerve hypoplasia
Attention deficit hyperactivity disorder
Narrow mouth
Abnormality of the outer ear
Sparse eyelashes
Preauricular skin tag
Choanal atresia
Hypoplasia of the iris
Microtia
Wide mouth
Micropenis
Corneal opacity
Sclerocornea
Abnormality of cardiovascular system morphology
High forehead
Abnormality of the dentition
Respiratory insufficiency
Ptosis
Anteverted nares
Tremor
Depressed nasal bridge
High palate
Hyposmia
Anosmia
Hypoplasia of penis
Inguinal hernia
Hypothyroidism
Scarring
Hypotelorism
Renal dysplasia
Ectopia lentis
Hand tremor
Heterotopia
Holoprosencephaly
Hemivertebrae
Hypogonadotrophic hypogonadism
Anterior chamber synechiae
Vascular neoplasm
Spastic tetraplegia
Abnormality of the genital system
Recurrent urinary tract infections
Specific learning disability
Type I diabetes mellitus
Growth hormone deficiency
Single transverse palmar crease
Facial palsy
Dandy-Walker malformation
Patent foramen ovale
Uterine rupture
Neoplasm of the eye
Missing ribs
Anterior pituitary hypoplasia
Butterfly vertebrae
Periventricular leukomalacia
Gonadotropin deficiency
Rib fusion
Exotropia
11 pairs of ribs
Abnormality of the diencephalon
Narrow palate
Dental crowding
Retinopathy of prematurity
Esophageal atresia
Increased number of teeth
Vertebral fusion
Spastic diplegia
Abnormal cochlea morphology
Microcornea
Dilatation
Hypopigmentation of the skin
Intellectual disability, moderate
Central hypothyroidism
Lower limb hypertonia
Abnormal glucose tolerance
Ocular pain
Decreased light- and dark-adapted electroretinogram amplitude
Peters anomaly
Hypopituitarism
Gait ataxia
Macular hypoplasia
Muscular hypotonia of the trunk
Aniridia
Reduced visual acuity
Ectopia pupillae
Limb hypertonia
Rigidity
Action tremor
Retinal vascular tortuosity
Vascular tortuosity
Hypoplasia of the fovea
Increased proinsulin:insulin ratio
Hydrocephalus
Ventriculomegaly
Hyperactivity
Polymicrogyria
Falls
Wide nasal bridge
Motor delay
Hypoplasia of the antihelix
Smooth philtrum
Aplasia/Hypoplasia of the macula
Bilateral ptosis
Nephroblastoma
Arachnodactyly
Albinism
Adrenal insufficiency
Aphakia
Central adrenal insufficiency
Lumbar kyphosis
Distal amyotrophy
Supernumerary ribs
Facial asymmetry
Polycystic kidney dysplasia
Short metatarsal
Microretrognathia
Multicystic kidney dysplasia
Short thumb
Broad thumb
Renal hypoplasia
Tetralogy of Fallot
Vesicoureteral reflux
Stage 5 chronic kidney disease
Anal atresia
Toe syndactyly
Triphalangeal thumb
Small for gestational age
Abnormality of the pinna
Abnormality of the kidney
Polydactyly
Abdominal pain
Clinodactyly
Syndactyly
Renal insufficiency
Edema
Hypertension
Prominent superficial blood vessels
Hypoargininemia
Preaxial polydactyly
Overfolded helix
Corneal arcus
Bifid uterus
Satyr ear
Aplasia/Hypoplasia of the 3rd toe
2-4 finger syndactyly
Stahl ear
Prominent scrotal raphe
Pulmonary valve atresia
Bilateral triphalangeal thumbs
Rectoperineal fistula
Metatarsal synostosis
Overfolding of the superior helices
3-4 toe syndactyly
Urethral valve
3-4 finger syndactyly
Bifid scrotum
Radial club hand
Partial duplication of thumb phalanx
Clinodactyly of the 5th toe
Epibulbar dermoid
Duane anomaly
Rectovaginal fistula
Duodenal atresia
Truncus arteriosus
Anal stenosis
Overlapping toe
2-3 toe syndactyly
Preaxial hand polydactyly
Polar cataract
Wide cranial sutures
Vertebral hypoplasia
Absent speech
Joint hypermobility
Abnormality of skin pigmentation
Hip dislocation
Blepharophimosis
Joint laxity
Difficulty walking
Mandibular prognathia
Respiratory failure
Brachycephaly
Prominent forehead
Severe short stature
Pectus excavatum
Vomiting
Triangular face
Talipes equinovarus
Abnormality of the skeletal system
Skeletal muscle atrophy
Intrauterine growth retardation
Delayed speech and language development
Flexion contracture
Proximal esophageal atresia
Cervical hemivertebrae
Glandular hypospadias
Hypothalamic hamartoma
Multiple impacted teeth
Absent gallbladder
Abnormal vitreous humor morphology
Underdeveloped nasal alae
Dermal translucency
Neurodevelopmental delay
Calcaneovalgus deformity
Narrow nasal ridge
Excessive wrinkled skin
Overlapping fingers
Premature skin wrinkling
Progeroid facial appearance
Severe failure to thrive
Severe intrauterine growth retardation
Prematurely aged appearance
Thin ribs
Reduced subcutaneous adipose tissue
Congenital glaucoma
Multiple joint contractures
Decreased fetal movement
Mild short stature
Athetosis
Poor suck
Adducted thumb
Hyperammonemia
Cutis laxa
Wormian bones
Congenital hip dislocation
Wide anterior fontanel
Large fontanelles
Thin skin
Blue sclerae
Corneal degeneration
Irritability
Posterior synechiae of the anterior chamber
Shield chest
Headache
Congestive heart failure
Diarrhea
Cardiomyopathy
Anemia
Left hemiplegia
Dysplastic aortic valve
Abnormality of the intervertebral disk
Long toe
Unilateral cryptorchidism
Thickened helices
Arrhythmia
Disproportionate short-trunk short stature
Vertebral compression fractures
Facial hypotonia
Abnormality of the antihelix
Abnormal eyebrow morphology
Posterior subcapsular cataract
Thoracic kyphosis
Iris hypopigmentation
Long fingers
Hemiplegia
Increased susceptibility to fractures
Thrombocytopenia
Hypoglycemia
Decreased body weight
Cardiac arrest
Abnormality of the basal ganglia
Abdominal situs inversus
Megaloblastic anemia
Macrocytic anemia
Secondary amenorrhea
Hyperglycemia
Myelodysplasia
Polycystic ovaries
Cone/cone-rod dystrophy
Aminoaciduria
Hoarse voice
Situs inversus totalis
Pallor
Anorexia
Pancytopenia
Amenorrhea
Abnormality of the skin
Aciduria
Neutropenia
Polyneuropathy
Retinal dystrophy
Paresthesia
Lethargy
Stroke
Accelerated skeletal maturation
Low posterior hairline
Progressive peripheral neuropathy
Downslanted palpebral fissures
Obstructive sleep apnea
Glossoptosis
Agenesis of permanent teeth
Atresia of the external auditory canal
Reduced number of teeth
Sleep apnea
Encephalocele
Dental malocclusion
Apnea
Conductive hearing impairment
Respiratory distress
Feeding difficulties
Abnormality of the nose
Hypoplasia of the olfactory bulb
Abnormality of the midface
Absent nares
Single naris
Failure of eruption of permanent teeth
Abdominal wall muscle weakness
Misalignment of teeth
Submucous cleft hard palate
External genital hypoplasia
Gynecomastia
Bifid uvula
Choanal stenosis
Cleft soft palate
Lumbar hyperlordosis
Short neck
Mitral valve prolapse
Webbed neck
Unsteady gait
Joint hyperflexibility
Platyspondyly
Pectus carinatum
Hyperlordosis
Pes planus
Osteopenia
Depressivity
Long philtrum
Abnormal parotid gland morphology
Anotia
Hypoplasia of the pharynx
Projection of scalp hair onto lateral cheek
Widely spaced primary teeth
Ectopic adrenal gland
Sparse lower eyelashes
Lower eyelid coloboma
Upper eyelid coloboma
Mandibulofacial dysostosis
Accessory spleen
Lacrimal duct stenosis
Bilateral microphthalmos
Sideroblastic anemia
Paroxysmal atrial tachycardia
Phthisis bulbi
Abnormality of the nervous system
Psychosis
Intellectual disability, profound
Migraine
Sleep disturbance
Confusion
Delayed puberty
Retinopathy
Developmental regression
Abnormality of the eye
Aggressive behavior
Anxiety
Hallucinations
Deeply set eye
EEG abnormality
Autism
Cerebral cortical atrophy
Myoclonus
Dementia
Behavioral abnormality
Intellectual disability, severe
Abnormality of corneal stroma
Trichiasis
Moderate hearing impairment
Stereotypy
Clonus
Generalized hyperkeratosis
Abnormality of the retinal vasculature
Erectile abnormalities
Leukocoria
Abnormal chorioretinal morphology
Shallow anterior chamber
Exudative vitreoretinopathy
Remnants of the hyaloid vascular system
Retinal fold
Retinoblastoma
Venous insufficiency
Anterior synechiae of the anterior chamber
Abnormal pupil morphology
Abnormality of the helix
Intellectual disability, progressive
Retinal dysplasia
Vitreoretinopathy
Abnormality of the vasculature
Severe vision loss
Abnormality of immune system physiology
Narrow nasal bridge
Abnormal retinal morphology
Aplasia/Hypoplasia of the cerebellum
Self-injurious behavior
Cachexia
Progressive hearing impairment
Corneal ulceration
Recurrent bacterial skin infections
Thiamine-responsive megaloblastic anemia
Ichthyosis
Osteolysis
Conjunctivitis
Knee flexion contracture
Skin ulcer
Sparse and thin eyebrow
Hypohidrosis
Thickened skin
Aganglionic megacolon
Progressive visual loss
Nail dysplasia
Palmoplantar keratoderma
Carious teeth
Reduced tendon reflexes
Nail dystrophy
Severe global developmental delay
Erythema
Arthritis
Carcinoma
Photophobia
Hyperkeratosis
Hyperhidrosis
Pes cavus
Cerebellar hypoplasia
Alopecia
Neoplasm of the skin
Urticaria
Corneal scarring
Abnormal eyelash morphology
Keratoconjunctivitis
Squamous cell carcinoma of the skin
Abnormality of the tongue
Recurrent corneal erosions
Corneal neovascularization
Dystrophic fingernails
Oral leukoplakia
Hypoplastic fingernail
Furrowed tongue
Dystrophic toenail
Corneal erosion
Alopecia of scalp
Scaling skin
Keratoconjunctivitis sicca
Severe hearing impairment
Cellulitis
Macule
Aplasia/Hypoplasia of the eyebrow
Squamous cell carcinoma
Hemiplegia/hemiparesis
Hypoplastic toenails
Absent eyebrow
Keratitis
Congenital sensorineural hearing impairment
Pseudoepiphyses of second metacarpal
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