Cryptorchidism, and Skin rash

Diseases related with Cryptorchidism and Skin rash

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

Top matches:

Medium match BLOOM SYNDROME

Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.

BLOOM SYNDROME Is also known as bls|microcephaly, growth restriction, and increased sister chromatid exchange 1|bs|bsyn|mgrisce1

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BLOOM SYNDROME

Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva).

FAMILIAL BENIGN CHRONIC PEMPHIGUS Is also known as poikiloderma atrophicans and cataract|hailey-hailey disease|benign chronic familial pemphigus of hailey-hailey

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL BENIGN CHRONIC PEMPHIGUS

Medium match JACOBSEN SYNDROME

Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

JACOBSEN SYNDROME Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACOBSEN SYNDROME

Other less relevant matches:

Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men.

AROMATASE DEFICIENCY Is also known as pseudohermaphroditism, female, due to placental aromatase deficiency|congenital estrogen deficiency

Related symptoms:

  • Growth delay
  • Pain
  • Cryptorchidism
  • Obesity
  • Delayed skeletal maturation


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AROMATASE DEFICIENCY

Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias.

CONGENITAL ADRENAL HYPERPLASIA DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY Is also known as cah due to 3-beta-hydroxysteroid dehydrogenase deficiency

Related symptoms:

  • Cryptorchidism
  • Feeding difficulties
  • Vomiting
  • Hypospadias
  • Delayed skeletal maturation


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL ADRENAL HYPERPLASIA DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY

Low match LIG4 SYNDROME

LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).

LIG4 SYNDROME Is also known as dna ligase iv deficiency|ligase 4 syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LIG4 SYNDROME

Related symptoms:

  • Strabismus
  • Cleft palate
  • Cryptorchidism
  • Hepatomegaly
  • Ventricular septal defect


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations.

CONGENITAL ADRENAL HYPERPLASIA DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY Is also known as disordered steroidogenesis due to por deficiency|congenital adrenal hyperplasia due to cytochrome por deficiency|pord|adrenal hyperplasia, congenital, due to cytochrome p450 oxidoreductase deficiency|por deficiency

Related symptoms:

  • Short stature
  • Scoliosis
  • Cryptorchidism
  • Low-set ears
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL ADRENAL HYPERPLASIA DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY

Peripheral dysostosis is a rare primary bone dysplasia characterized by cone-shaped epiphyses of the phalanges, hyperextensibility and hyperflexibility of the fingers and marked delay in ossification of hand bones. Short-limbed short stature, very stubby, short fingers and toes, flat face and nose and a large skull may also be associated. There have been no further descriptions in the literature since 1980.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERIPHERAL DYSOSTOSIS

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

Top 5 symptoms//phenotypes associated to Cryptorchidism and Skin rash

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Hypospadias Uncommon - Between 30% and 50% cases
Osteoporosis Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Delayed skeletal maturation Short nose Clinodactyly of the 5th finger Abnormality of the skeletal system Erythema Micrognathia Squamous cell carcinoma Telangiectasia Epicanthus Decreased fertility in females Hypogonadism Type II diabetes mellitus Cutaneous photosensitivity Microcephaly Hypothyroidism Flexion contracture Hearing impairment Strabismus Frontal bossing Hypertension Leukemia Sensorineural hearing impairment Feeding difficulties Hirsutism Immunodeficiency Intrauterine growth retardation Abnormality of the dentition Recurrent infections Global developmental delay Acne Enlarged polycystic ovaries Ambiguous genitalia, female Clitoral hypertrophy Diabetes mellitus Neoplasm Accelerated skeletal maturation

Rare Symptoms - Less than 30% cases

Osteopenia Neoplasm of the skin Telecanthus Midface retrusion Craniosynostosis Postural instability Hypoglycemia Short thumb Premature birth Dehydration Depressed nasal bridge Pyloric stenosis Annular pancreas Inguinal hernia Patent ductus arteriosus Clinodactyly Scoliosis Hypertelorism Delayed puberty Thrombocytopenia Anteverted nares Ventricular septal defect Pancytopenia Wide nasal bridge Brachydactyly Low-set ears Eczema Enlarged ovaries Psoriasiform dermatitis Generalized hyperpigmentation Abnormal vagina morphology Absence of secondary sex characteristics Pain Obesity Decreased circulating cortisol level Male pseudohermaphroditism Neonatal hypoglycemia Primary adrenal insufficiency Tall stature Perineal hypospadias Insulin resistance Decreased fertility Bifid scrotum Polycystic ovaries Reduced bone mineral density Ovarian cyst Ambiguous genitalia Decreased testicular size Ambiguous genitalia, male Urogenital sinus anomaly Flat occiput Hyperpigmented genitalia Aplasia/Hypoplasia of the eyebrow Brachycephaly Abnormal eyelash morphology Diastasis recti Hepatomegaly Delayed speech and language development Ectopic adrenal gland Abnormality of the labia majora Androgen insufficiency Abnormality of the menstrual cycle Growth hormone deficiency Abnormal sex determination Female external genitalia in individual with 46,XY karyotype Premature adrenarche Decreased fertility in males Adrenogenital syndrome Adrenocorticotropic hormone excess Congenital adrenal hyperplasia Increased circulating ACTH level Microdontia Maternal virilization in pregnancy Talipes equinovarus Acute leukemia Azoospermia Lymphoma Decreased antibody level in blood Small hand Hyperkeratosis Telangiectasia of the skin Otitis media Cleft palate Hand polydactyly Dolichocephaly Anal atresia Abnormality of the face Nail dystrophy Hip dislocation Small for gestational age Sparse hair Skeletal dysplasia Sinusitis Infertility Ichthyosis Finger syndactyly Female infertility Failure to thrive Anemia Delayed eruption of teeth Vomiting Diarrhea Intellectual disability, mild Abnormality of chromosome stability Malar flattening Syndactyly Recurrent respiratory infections Cataract Postnatal growth retardation Polydactyly Microcornea Alopecia Hyperhidrosis Microphthalmia Mandibular prognathia Malabsorption Lymphadenopathy Hypoplastic toenails Thin vermilion border Hemiplegia/hemiparesis Upslanted palpebral fissure Abnormality of the nervous system Macule Hypoplasia of penis Fine hair Low anterior hairline Splenomegaly Overgrowth Macroglossia Renal cyst Apnea Abnormality of the kidney Umbilical hernia Coarse facial features Large beaked nose Myelodysplasia Bird-like facies Abnormality of bone marrow cell morphology Severe combined immunodeficiency Combined immunodeficiency Leukocytosis Congenital sensorineural hearing impairment Keratitis Absent eyebrow Biparietal narrowing Dystrophic fingernails Cellulitis Hyperkalemia Keratoconjunctivitis Elevated circulating follicle stimulating hormone level Corneal scarring Recurrent bacterial skin infections Renal salt wasting Generalized hyperkeratosis Glucose intolerance Elevated circulating luteinizing hormone level Hyponatremia Corneal ulceration Moderate hearing impairment Gynecomastia Trichiasis Hypotension Decreased circulating aldosterone level Squamous cell carcinoma of the skin Severe hearing impairment Hypernatriuria Keratoconjunctivitis sicca Alopecia of scalp Corneal erosion Abnormal oral glucose tolerance Dystrophic toenail Furrowed tongue Hypoplastic fingernail Increased circulating renin level Oral leukoplakia Abnormality of the outer ear Hypovolemia Abnormal glucose tolerance Corneal neovascularization Recurrent corneal erosions Abnormality of the tongue Omphalocele Reduced tendon reflexes Large for gestational age Hypohidrosis Congenital hypothyroidism Mild short stature Cone-shaped epiphysis Short metatarsal Increased intracranial pressure Type I diabetes mellitus Short phalanx of finger Osteoarthritis Underdeveloped nasal alae Rhinitis Sparse and thin eyebrow Short metacarpal Round face Asthma Skin ulcer Joint stiffness Autism Hyperactivity Spinal canal stenosis Cone-shaped epiphyses of the phalanges of the hand Female sexual dysfunction Arthritis Progressive visual loss Aganglionic megacolon Nail dysplasia Palmoplantar keratoderma Carious teeth Thickened skin Severe global developmental delay Scarring Carcinoma Blue irides Photophobia Pes cavus Cerebellar hypoplasia Visual loss Blindness Visual impairment Chronic rhinitis Red hair Fair hair Elbow flexion contracture Abnormality of prenatal development or birth Supernumerary nipple Visceromegaly Osteolysis Auricular pit Prune belly Embryonal neoplasm Anterior creases of earlobe Abdominal wall defect Tethered cord Abnormality of earlobe Hemihypertrophy Sparse eyelashes Skin tags Abnormality of the vasculature Enlarged kidney Nevus flammeus Urticaria Central hypotonia Syringomyelia Neuroblastoma Scaling skin Postauricular pit Micropenis Increased circulating androgen level Choanal stenosis Decreased circulating androgen level Pear-shaped nose Congenital adrenal hypoplasia Hypoplasia of the vagina Increased serum testosterone level Decreased serum estradiol Decreased serum testosterone level Knee flexion contracture Adrenal hyperplasia Narrow mouth Adrenal hypoplasia Aortic root aneurysm Femoral bowing Disproportionate tall stature Choanal atresia Arachnodactyly Broad forehead Abnormality of the pinna Conjunctivitis Hypoplasia of the maxilla Missing ribs Acidosis Patellar aplasia Forearm reduction defects Zonular cataract Bilateral radial aplasia Juvenile cataract Duodenal stenosis Iris atrophy Aplasia/Hypoplasia of the patella Skin erosion Acantholysis Rectovaginal fistula Generalized hypotonia Concave nasal ridge Poikiloderma Osteosarcoma Absent radius Proportionate short stature Aplasia/Hypoplasia of the thumb Anteriorly placed anus Increased number of teeth Skin vesicle Seizures Abnormal facial shape Agenesis of permanent teeth Long philtrum High forehead Prominent forehead Agenesis of corpus callosum Constipation Abnormal heart morphology Pectus excavatum Hernia Abnormality of cardiovascular system morphology Cerebral atrophy Behavioral abnormality Muscular hypotonia Congestive heart failure Atrial septal defect Hydrocephalus Short neck Ventriculomegaly Downslanted palpebral fissures Optic atrophy Macrocephaly Ptosis Spasticity Absent thumb Basal cell carcinoma Pes planus Narrow face Hodgkin lymphoma IgA deficiency Acute myeloid leukemia Myeloid leukemia Pulmonary fibrosis High pitched voice Reduced number of teeth Hypopigmented skin patches Sacral dimple Cafe-au-lait spot Hypoplasia of the zygomatic bone Bronchiectasis Hypertrichosis Specific learning disability Abnormality of the skin Prominent nose Protruding ear Severe short stature Pneumonia Cardiomyopathy IgG deficiency Chromosome breakage Premature graying of hair Corneal opacity Sarcoma Dermal atrophy Congenital hip dislocation Short palpebral fissure Hypodontia Hypopigmentation of the skin Short foot Short palm Flat face Kyphoscoliosis Hypoplastic pelvis Glaucoma Facial telangiectasia in butterfly midface distribution Agenesis of maxillary lateral incisor Neoplasm of the gastrointestinal tract Spotty hyperpigmentation Spotty hypopigmentation IgM deficiency Abnormality of the nose Chronic obstructive pulmonary disease Chronic lung disease Retrognathia Thin upper lip vermilion Macroorchidism, postpubertal Broad columella Giant platelets Macular hypoplasia Clitoral hypoplasia Central hypothyroidism U-Shaped upper lip vermilion Urethral stenosis Long hallux Abnormality of the head Nasolacrimal duct obstruction Abnormal thrombocyte morphology Abnormality of the anus Labial hypoplasia Aplasia/Hypoplasia of the earlobes Nuclear cataract Broad hallux phalanx Mitral stenosis Ectopic anus Duodenal atresia Eyelid coloboma Chronic constipation Toe clinodactyly Internal hemorrhage Double outlet right ventricle Hypergonadotropic hypogonadism Female pseudohermaphroditism Eunuchoid habitus Macroorchidism Delayed epiphyseal ossification Male infertility Bilateral cryptorchidism Acanthosis nigricans Hyperlipidemia Generalized hirsutism Bone pain Arteria lusoria Primary amenorrhea Epidermal acanthosis Abnormality of the cardiovascular system Amenorrhea Hepatic steatosis Genu valgum Abnormality of the curvature of the vertebral column Megakaryocyte dysplasia Congenital thrombocytopenia Bilateral camptodactyly Retinal dysplasia Bipolar affective disorder Hydronephrosis Talipes Abnormal form of the vertebral bodies Coarctation of aorta Webbed neck Intestinal malrotation Single transverse palmar crease Iris coloboma Bruising susceptibility Tachycardia Smooth philtrum Facial asymmetry Amblyopia Narrow chest Toe syndactyly Neurological speech impairment Attention deficit hyperactivity disorder Abnormal cardiac septum morphology Coloboma Feeding difficulties in infancy Camptodactyly Low-set, posteriorly rotated ears Intellectual disability, moderate Pachygyria Short toe Wheezing Ectropion Transposition of the great arteries Natal tooth Slender finger Partial agenesis of the corpus callosum Atrioventricular canal defect Hypoplastic left heart Hammertoe Heart murmur Chorioretinal coloboma Trigonocephaly Leukodystrophy Schizophrenia Infantile muscular hypotonia Tachypnea Abnormal palate morphology Holoprosencephaly Multicystic kidney dysplasia Horseshoe kidney Bone marrow hypocellularity Spina bifida Aortic valve stenosis Abnormality of corneal stroma


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