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:

Medium 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

Medium match TREACHER COLLINS SYNDROME 1; TCS1


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

Medium 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 SYNDROME

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Other less relevant matches:

Medium match THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME


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

Medium match KID 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

Medium match NORRIE DISEASE


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

Medium match ISOLATED ANIRIDIA


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

Medium match ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME


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

Medium match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A


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

Medium match TOWNES-BROCKS SYNDROME 1; TBS1


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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