Cryptorchidism, and Inflammatory abnormality of the skin

Diseases related with Cryptorchidism and Inflammatory abnormality of the skin

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


Top matches:

Low match AROMATASE DEFICIENCY


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

Low match CONGENITAL ADRENAL HYPERPLASIA DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 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

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Other less relevant matches:

Low match BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION


Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION

Low match CONGENITAL ADRENAL HYPERPLASIA DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY


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

Low match PERIPHERAL DYSOSTOSIS


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

Low 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

Low match INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME


Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.

INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME Is also known as sparse hair and mental retardation|nbs|nicolaides-baraitser syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME

Low match FAMILIAL BENIGN CHRONIC PEMPHIGUS


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

Top 5 symptoms//phenotypes associated to Cryptorchidism and Inflammatory abnormality of the skin

Symptoms // Phenotype % cases
Growth delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Delayed skeletal maturation Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Osteoporosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cryptorchidism and Inflammatory abnormality of the skin. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of the skeletal system Erythema Accelerated skeletal maturation Hypospadias Feeding difficulties Microcephaly Brachycephaly Sparse hair Clinodactyly of the 5th finger Ambiguous genitalia, female Enlarged polycystic ovaries Alopecia Neoplasm Hirsutism Acne Clitoral hypertrophy Diabetes mellitus Micrognathia Global developmental delay Telangiectasia Squamous cell carcinoma Short nose Obesity Intrauterine growth retardation Hypertension Decreased fertility in females Type II diabetes mellitus Cutaneous photosensitivity

Rare Symptoms - Less than 30% cases


Leukemia Low anterior hairline Thin vermilion border Hyperkeratosis Hyperhidrosis Lymphoma Frontal bossing Small for gestational age Hypothyroidism Recurrent infections Immunodeficiency Specific learning disability Hepatomegaly Epicanthus Ectopic adrenal gland Abnormality of the labia majora Hyperpigmented genitalia Nail dystrophy Psoriasiform dermatitis Sensorineural hearing impairment Telangiectasia of the skin Eczema Flexion contracture Scoliosis Midface retrusion Brachydactyly Anteverted nares Malar flattening Short palpebral fissure Autism Mandibular prognathia Skeletal dysplasia Small hand Short metacarpal Short phalanx of finger Abnormality of the dentition Abnormality of the face Short metatarsal Cone-shaped epiphysis Coarse facial features Polydactyly Pain Enlarged ovaries Hearing impairment Cleft palate Strabismus Abnormality of chromosome stability Acute leukemia Short palm Androgen insufficiency Delayed speech and language development Abnormal sex determination Female external genitalia in individual with 46,XY karyotype Generalized hyperpigmentation Decreased fertility Skin rash Bifid scrotum Postnatal growth retardation Polycystic ovaries Reduced bone mineral density Severe short stature Ambiguous genitalia Decreased testicular size Delayed puberty Maternal virilization in pregnancy Neonatal hypoglycemia Female infertility Diarrhea Neoplasm of the skin Ovarian cyst Anemia Failure to thrive Absent eyebrow Insulin resistance Tall stature Infertility Hypogonadism Primary adrenal insufficiency Vomiting Male pseudohermaphroditism Ambiguous genitalia, male Premature adrenarche Decreased fertility in males Adrenogenital syndrome Adrenocorticotropic hormone excess Ichthyosis Increased circulating ACTH level Abnormality of the menstrual cycle Urogenital sinus anomaly Delayed eruption of teeth Perineal hypospadias Congenital adrenal hyperplasia Decreased circulating cortisol level Absence of secondary sex characteristics Abnormal vagina morphology Decreased antibody level in blood Neoplasm of the gastrointestinal tract Keratoconjunctivitis Corneal scarring Recurrent bacterial skin infections Generalized hyperkeratosis Narrow face Abnormality of the tongue Corneal ulceration Spotty hyperpigmentation Moderate hearing impairment Cafe-au-lait spot Trichiasis Squamous cell carcinoma of the skin Recurrent corneal erosions Finger syndactyly Spotty hypopigmentation Agenesis of maxillary lateral incisor Facial telangiectasia in butterfly midface distribution Seizures Corneal neovascularization Generalized hypotonia Abnormal facial shape Downslanted palpebral fissures Intellectual disability, severe Long philtrum Otitis media Abnormality of cardiovascular system morphology Absent speech Abnormality of corneal stroma IgM deficiency Bronchiectasis Acute myeloid leukemia Hypertrichosis Prominent nose Reduced number of teeth Recurrent respiratory infections Pneumonia Sacral dimple Syndactyly Hand polydactyly High pitched voice Dolichocephaly Intellectual disability, mild Pulmonary fibrosis Myeloid leukemia IgA deficiency Hypopigmented skin patches Hodgkin lymphoma IgG deficiency Azoospermia Deeply set eye Hypoplasia of the zygomatic bone Protruding ear Chromosome breakage Sinusitis Hypoplastic pelvis Cardiomyopathy Chronic lung disease Abnormality of the skin Chronic obstructive pulmonary disease Abnormality of the nose Hernia Epileptic spasms Aggressive behavior Short foot Sarcoma Dermal atrophy Congenital hip dislocation Short thumb Microdontia Growth hormone deficiency Hypodontia Microcornea Hypopigmentation of the skin Flat face Premature graying of hair Anal atresia Hip dislocation Corneal opacity Kyphoscoliosis Glaucoma Microphthalmia Talipes equinovarus Cataract Prominent proximal interphalangeal joints Unilateral narrow palpebral fissure Pyloric stenosis Basal cell carcinoma Prominent eyelashes Patellar aplasia Zonular cataract Bilateral radial aplasia Juvenile cataract Annular pancreas Duodenal stenosis Iris atrophy Aplasia/Hypoplasia of the patella Skin erosion Acantholysis Rectovaginal fistula Agenesis of permanent teeth Concave nasal ridge Poikiloderma Osteosarcoma Absent radius Proportionate short stature Aplasia/Hypoplasia of the thumb Anteriorly placed anus Increased number of teeth Skin vesicle Absent thumb Prominent interphalangeal joints Curly eyelashes Autistic behavior Triangular face Abnormality of epiphysis morphology Long eyelashes Broad-based gait Sparse scalp hair Thick lower lip vermilion Status epilepticus Wide intermamillary distance Full cheeks Broad nasal tip Highly arched eyebrow Joint dislocation Everted lower lip vermilion High, narrow palate Wide nose Thick eyebrow Smooth philtrum Poor speech Synophrys Hypotrichosis Blepharophimosis Wide mouth Absence seizures Narrow palpebral fissure Clubbing of toes Echolalia Thick nasal alae Excessive wrinkled skin Broad distal phalanx of finger Eclabion Wide nasal base Broad columella Enlarged joints Broad philtrum Abnormality of the testis Abnormal hair pattern Abnormality of finger Sandal gap Oral leukoplakia Protruding tongue Narrow nasal bridge Dysphasia Aphasia Overfolded helix Abnormality of the metacarpal bones Mutism Drooling Widely spaced teeth Dystrophic fingernails Fair hair Hypoplastic fingernail Ventricular septal defect Renal cyst Apnea Abnormality of the kidney Hypoglycemia Umbilical hernia Inguinal hernia Patent ductus arteriosus Splenomegaly Large beaked nose Premature birth Bird-like facies Abnormality of bone marrow cell morphology Severe combined immunodeficiency Biparietal narrowing Combined immunodeficiency Leukocytosis Myelodysplasia Pancytopenia Macroglossia Overgrowth Lymphadenopathy Skin tags Embryonal neoplasm Anterior creases of earlobe Abdominal wall defect Tethered cord Abnormality of earlobe Visceromegaly Hemihypertrophy Diastasis recti Abnormality of the vasculature Omphalocele Enlarged kidney Nevus flammeus Central hypotonia Syringomyelia Neuroblastoma Supernumerary nipple Large for gestational age Abnormality of the outer ear Hypoplasia of penis Malabsorption Auricular pit Hypergonadotropic hypogonadism Eunuchoid habitus Macroorchidism Delayed epiphyseal ossification Male infertility Bilateral cryptorchidism Acanthosis nigricans Hyperlipidemia Generalized hirsutism Bone pain Macroorchidism, postpubertal Primary amenorrhea Epidermal acanthosis Abnormality of the cardiovascular system Amenorrhea Postural instability Hepatic steatosis Genu valgum Osteopenia Female pseudohermaphroditism Acidosis Telecanthus Increased circulating renin level Abnormality of the nervous system Upslanted palpebral fissure Thrombocytopenia Wide nasal bridge Abnormal oral glucose tolerance Hypernatriuria Hypovolemia Abnormal glucose tolerance Elevated circulating luteinizing hormone level Hypotension Decreased circulating aldosterone level Elevated circulating follicle stimulating hormone level Renal salt wasting Hyperkalemia Glucose intolerance Hyponatremia Gynecomastia Dehydration Prune belly Postauricular pit Furrowed tongue Carious teeth Sparse and thin eyebrow Hypohidrosis Thickened skin Aganglionic megacolon Fine hair Progressive visual loss Nail dysplasia Palmoplantar keratoderma Severe global developmental delay Elbow flexion contracture Scarring Arthritis Carcinoma Photophobia Pes cavus Cerebellar hypoplasia Visual loss Blindness Skin ulcer Knee flexion contracture Chronic rhinitis Aplasia/Hypoplasia of the eyebrow Dystrophic toenail Corneal erosion Abnormal eyelash morphology Alopecia of scalp Keratoconjunctivitis sicca Severe hearing impairment Cellulitis Macule Hemiplegia/hemiparesis Conjunctivitis Hypoplastic toenails Keratitis Congenital sensorineural hearing impairment Scaling skin Urticaria Reduced tendon reflexes Osteolysis Sparse eyelashes Visual impairment Red hair Low-set ears Disproportionate tall stature Increased serum testosterone level Decreased serum estradiol Decreased serum testosterone level Choanal stenosis Adrenal hyperplasia Adrenal hypoplasia Aortic root aneurysm Femoral bowing Flat occiput Congenital adrenal hypoplasia Choanal atresia Arachnodactyly Broad forehead Craniosynostosis Abnormality of the pinna Narrow mouth Micropenis Clinodactyly Hypoplasia of the vagina Pear-shaped nose Blue irides Underdeveloped nasal alae Cone-shaped epiphyses of the phalanges of the hand Rhinitis Spinal canal stenosis Congenital hypothyroidism Mild short stature Increased intracranial pressure Type I diabetes mellitus Osteoarthritis Round face Decreased circulating androgen level Asthma Hypoplasia of the maxilla Joint stiffness Hyperactivity Depressed nasal bridge Hypertelorism Female sexual dysfunction Abnormality of prenatal development or birth Increased circulating androgen level Forearm reduction defects



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