Cryptorchidism, and Corneal opacity

Diseases related with Cryptorchidism and Corneal opacity

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

Top matches:

Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin.

RECESSIVE X-LINKED ICHTHYOSIS Is also known as x-linked ichthyosis|rxli|xli|steroid sulfatase deficiency

Related symptoms:

  • Cryptorchidism
  • Hyperkeratosis
  • Autism
  • Attention deficit hyperactivity disorder
  • Neurological speech impairment


SOURCES: ORPHANET MENDELIAN

More info about RECESSIVE X-LINKED ICHTHYOSIS

X-linked ichthyosis is clinically characterized by widespread, dark brown, polygonal scales and generalized dryness. Cutaneous manifestations are present soon after birth and usually do not improve with age. The histopathology of XLI typically shows compact hyperkeratosis and slight acanthosis with a normal granular layer (summary by Takeichi and Akiyama, 2016).X-linked ichthyosis is fundamentally the same disorder as placental steroid sulfatase deficiency, which is often first noted in the pregnant mother of affected males by decreased estrogen or delayed progression of parturition (Alperin and Shapiro, 1997). This is thus an example of affinity ('lumping') of phenotypes thought previously to be separate, the opposite of genetic heterogeneity.Schnyder (1970) gave a useful classification of the inherited ichthyoses.Hernandez-Martin et al. (1999) provided a comprehensive review of X-linked ichthyosis. They pointed out that among all genetic disorders X-linked ichthyosis shows one of the highest ratios of chromosomal deletions; complete deletion has been found in up to 90% of patients.Takeichi and Akiyama (2016) reviewed inherited nonsyndromic forms of ichthyosis.

ICHTHYOSIS, X-LINKED; XLI Is also known as ssdd|placental steroid sulfatase deficiency|sts deficiency|steroid sulfatase deficiency|steroid sulfatase deficiency disease

Related symptoms:

  • Neoplasm
  • Cryptorchidism
  • Abnormality of metabolism/homeostasis
  • Hypogonadism
  • Hyperkeratosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about ICHTHYOSIS, X-LINKED; XLI

Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI (see this term) that are associated with extracutaneous manifestations as part of a syndrome.

SYNDROMIC RECESSIVE X-LINKED ICHTHYOSIS Is also known as recessive x-linked ichthyosis with extracutaneous manifestations|syndromic rxli

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Cryptorchidism


SOURCES: ORPHANET MENDELIAN

More info about SYNDROMIC RECESSIVE X-LINKED ICHTHYOSIS

Other less relevant matches:

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is a autosomal recessive disorder associated with severe neurologic defects and resulting in early infantile death. 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 Buysse 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, 13; MDDGA13 Is also known as walker-warburg syndrome or muscle-eye-brain disease, b3gnt1-related

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Cryptorchidism
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13

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

Medium match WAGR SYNDROME

WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor.

WAGR SYNDROME Is also known as del(11)(p13)|chromosome 11p13 deletion syndrome|wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome|monosomy 11p13|deletion 11p13|wagr syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about WAGR SYNDROME

Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.

ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME Is also known as arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Cleft palate
  • Cataract
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME

Medium match MECKEL SYNDROME

Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.

MECKEL SYNDROME Is also known as meckel-gruber syndrome

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about MECKEL SYNDROME

Low 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

Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome (see this term), the latter differs from SSS by its normal intelligence and skeletal features.

SANJAD-SAKATI SYNDROME Is also known as richardson-kirk syndrome|hrd syndrome|sanjad-sakati syndrome|hypoparathyroidism-intellectual disability-dysmorphism syndrome|hypoparathyroidism, congenital, associated with dysmorphism, growth retardation, and developmental delay|sss|hypoparathyroidism wi

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SANJAD-SAKATI SYNDROME

Top 5 symptoms//phenotypes associated to Cryptorchidism and Corneal opacity

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Microphthalmia Uncommon - Between 30% and 50% cases
Hyperkeratosis Uncommon - Between 30% and 50% cases
Ichthyosis Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Cataract Hypogonadism Encephalocele Microcornea Global developmental delay Seizures Anophthalmia Visual impairment Microcephaly Micrognathia Hypospadias Micropenis Neoplasm Opacification of the corneal stroma Hypohidrosis

Rare Symptoms - Less than 30% cases

Dandy-Walker malformation Muscular dystrophy Knee flexion contracture Hearing impairment Generalized hypotonia Cleft palate Ambiguous genitalia Hypertelorism Coloboma Low-set ears Anencephaly Prominent forehead Pes cavus Nystagmus Abnormal facial shape Cerebellar hypoplasia Delayed skeletal maturation Blindness Aplasia/Hypoplasia of the iris Attention deficit hyperactivity disorder Anosmia Low-set, posteriorly rotated ears Autism Renal insufficiency Hydrocephalus Lissencephaly Sclerocornea Hypoplasia of the corpus callosum Furrowed tongue Abnormality of the dentition Osteolysis Conjunctivitis Aplasia/Hypoplasia of the eyebrow Squamous cell carcinoma Hemiplegia/hemiparesis Reduced tendon reflexes Hypoplastic toenails Absent eyebrow Sparse eyelashes Keratitis Neoplasm of the skin Elbow flexion contracture Congenital sensorineural hearing impairment Scaling skin Urticaria Macule Sparse hair Skin ulcer Aplasia/Hypoplasia of the tongue Pain Sensorineural hearing impairment Cystic liver disease Lobar holoprosencephaly True hermaphroditism Pancreatic fibrosis Urethral atresia Alopecia Abnormal chorioretinal morphology Accessory spleen Pancreatic cysts Ureteral duplication Congenital hepatic fibrosis Asplenia Visual loss Hyperhidrosis Sparse and thin eyebrow Palmoplantar keratoderma Thickened skin Aganglionic megacolon Fine hair Progressive visual loss Nail dysplasia Delayed eruption of teeth Carious teeth Photophobia Nail dystrophy Severe global developmental delay Scarring Erythema Arthritis Carcinoma Cellulitis Recurrent bacterial skin infections Severe hearing impairment Hypocalcemia Muscular hypotonia of the trunk Postnatal growth retardation Small for gestational age Astigmatism Thin vermilion border Short palm Small hand Short foot Bifid uvula Delayed myelination Growth hormone deficiency Convex nasal ridge Hypoplasia of penis Recurrent bacterial infections Thin upper lip vermilion Abnormality of dental enamel Intestinal obstruction Spinal canal stenosis External ear malformation Severe intrauterine growth retardation Hypoparathyroidism Hyperphosphatemia Decreased circulating cortisol level Tetany Aplasia/Hypoplasia affecting the eye Cellular immunodeficiency Hypocalcemic seizures Congenital hypoparathyroidism Deeply set eye High forehead Keratoconjunctivitis sicca Male pseudohermaphroditism Alopecia of scalp Abnormal eyelash morphology Corneal erosion Dystrophic toenail Hypoplastic fingernail Oral leukoplakia Dystrophic fingernails Corneal neovascularization Recurrent corneal erosions Abnormality of the tongue Squamous cell carcinoma of the skin Keratoconjunctivitis Corneal scarring Generalized hyperkeratosis Posteriorly rotated ears Corneal ulceration Moderate hearing impairment Trichiasis Abnormality of corneal stroma Growth delay Failure to thrive Depressed nasal bridge Intrauterine growth retardation Frontal bossing Ventriculomegaly Myopathy Long philtrum Recurrent respiratory infections Severe short stature Postaxial foot polydactyly Hypoplastic labia majora Preaxial hand polydactyly Intellectual disability, moderate Occipital encephalocele Retinal dysplasia Type II lissencephaly Renal cortical cysts Optic nerve dysplasia Strabismus Flexion contracture Epicanthus Macrocephaly Syndactyly Skeletal dysplasia Pes planus Retinal detachment Cortical dysplasia Long eyelashes Rhizomelia Deep philtrum Precocious puberty Chorioretinal coloboma Ectopia pupillae Periorbital fullness Monocular strabismus Scoliosis Ptosis Cardiomyopathy Obesity Absent septum pellucidum Hypoplasia of the brainstem Hypertrophic cardiomyopathy Acute leukemia Neurological speech impairment Dry skin Abnormality of metabolism/homeostasis Epidermal acanthosis Hypergonadotropic hypogonadism Bilateral cryptorchidism External genital hypoplasia Congenital ichthyosiform erythroderma Elevated circulating follicle stimulating hormone level Opacification of the corneal epithelium Unilateral renal agenesis Dysphasia Abnormality of the abdominal wall Congenital muscular dystrophy Abdominal wall defect Abnormality of the stomach Testicular seminoma Spasticity Cognitive impairment Elevated serum creatine phosphokinase Agenesis of corpus callosum Hydronephrosis Renal cyst Decreased testicular size Heterotopia Renal dysplasia Severe muscular hypotonia Glaucoma Leukemia Aplasia/Hypoplasia of the corpus callosum Frontal encephalocele Scrotal hypoplasia Reduced number of teeth Limb-girdle muscular dystrophy Preauricular pit Agenesis of permanent teeth Hyposmia Lacrimation abnormality Hypoplasia of teeth Diastema Lacrimal duct stenosis Abnormality of the sense of smell Aplasia/Hypoplasia involving the nose Aplasia of the nose Choanal atresia Absent paranasal sinuses Optic atrophy Abnormality of cardiovascular system morphology Talipes Full cheeks Postaxial hand polydactyly Sloping forehead Oligohydramnios Depressed nasal ridge Bowing of the long bones Situs inversus totalis Multicystic kidney dysplasia Hypogonadotrophic hypogonadism Primary amenorrhea Nephropathy Abnormal vagina morphology Everted lower lip vermilion Abnormality of the genital system Abnormality of the genitourinary system Nephroblastoma Aniridia Acute lymphoblastic leukemia Hearing abnormality Renal neoplasm Hemihypertrophy Abnormality of the uterus Gonadoblastoma Peters anomaly Streak ovary Dental malocclusion Displacement of the external urethral meatus Dysfunction of lateral corticospinal tracts High palate Edema Midface retrusion Hernia Inguinal hernia Cleft lip Synophrys Delayed puberty Iris coloboma Hypoplasia of the maxilla Broad nasal tip Patchy osteosclerosis


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