Cryptorchidism, and Telangiectasia

Diseases related with Cryptorchidism and Telangiectasia

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

Top matches:

Juvenile polyposis syndrome is an autosomal dominant condition that predisposes gene carriers to various types of tumors. The diagnosis is based on the occurrence of hamartomatous gastrointestinal polyps that turn into malignant lesions in approximately 20% of cases (Handra-Luca et al., 2005).It had been suggested that juvenile polyposis can be caused by mutations in the PTEN gene (OMIM ), the same gene that is mutant in Cowden syndrome-1 (OMIM ). In a comprehensive review of PTEN, Waite and Eng (2002) concluded that juvenile intestinal polyposis is not a so-called PTEN hamartoma-tumor syndrome (PHTS). They suggested that the discovery of the germline PTEN mutation in an individual considered to have JPS should raise a suspicion that the clinical diagnosis is incorrect and that such an individual should be managed medically in the same manner as all patients with PHTS.

JUVENILE POLYPOSIS SYNDROME; JPS Is also known as polyposis, juvenile intestinal|pji|jip|juvenile intestinal polyposis|polyposis, familial, of entire gastrointestinal tract

Related symptoms:

  • Seizures
  • Neoplasm
  • Failure to thrive
  • Pain
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about JUVENILE POLYPOSIS SYNDROME; JPS

Deafness-intellectual disability syndrome, Martin-Probst type is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome.

DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE Is also known as martin-probst deafness-mental retardation syndrome|x-linked deafness-intellectual disability syndrome syndrome|martin-probst syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE

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

Other less relevant matches:

Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes.

PRUNE BELLY SYNDROME Is also known as abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism|abdominal muscle deficiency syndrome|eagle-barret syndrome|eagle-barrett syndrome|triad syndrome|egbrs|obrinsky syndrome

Related symptoms:

  • Scoliosis
  • Failure to thrive
  • Cryptorchidism
  • Cognitive impairment
  • Ventricular septal defect


SOURCES: OMIM ORPHANET MENDELIAN

More info about PRUNE BELLY SYNDROME

This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH).

DILATED CARDIOMYOPATHY-HYPERGONADOTROPIC HYPOGONADISM SYNDROME Is also known as cardiomyopathy, dilated, with premature ovarian failure|genital anomaly with cardiomyopathy|najjar syndrome|cardiomyopathy, congestive, with hypergonadotropic hypogonadism|cardiogenital syndrome|cardiomyopathy with primary testicular failure|malouf syndro

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Cryptorchidism
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about DILATED CARDIOMYOPATHY-HYPERGONADOTROPIC HYPOGONADISM 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

Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms).

XERODERMA PIGMENTOSUM Is also known as xeroderma pigmentosum i|xp1|xp, group a|xp

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about XERODERMA PIGMENTOSUM

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

Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.

HOYERAAL-HREIDARSSON SYNDROME Is also known as progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome|zinsser-cole-engman syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HOYERAAL-HREIDARSSON SYNDROME

Top 5 symptoms//phenotypes associated to Cryptorchidism and Telangiectasia

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Neoplasm Erythema Cutaneous photosensitivity Abnormality of the dentition Telangiectasia of the skin Cataract Growth delay Squamous cell carcinoma Micrognathia Hearing impairment Wide nasal bridge Pancytopenia Sensorineural hearing impairment Seizures Abnormality of the skeletal system Immunodeficiency Scoliosis Abnormality of the skin Decreased testicular size Osteoporosis Hypogonadism Strabismus Alopecia Dermal atrophy Leukemia Poikiloderma Diarrhea Carcinoma

Rare Symptoms - Less than 30% cases

Hypopigmentation of the skin Umbilical hernia Neoplasm of the skin Myelodysplasia Conjunctivitis Type II diabetes mellitus Lymphoma Bone marrow hypocellularity Thrombocytopenia Clinodactyly of the 5th finger Abnormality of chromosome stability Global developmental delay Hyperkeratosis Cerebral cortical atrophy Hypertension Hyporeflexia Optic atrophy Respiratory distress Acute leukemia Pterygium Ataxia Blepharitis Small for gestational age Bilateral cryptorchidism Nail dystrophy Urethral stenosis Congenital hip dislocation Oligohydramnios Hernia Anal atresia Cognitive impairment Hip dislocation Recurrent respiratory infections Flexion contracture Premature graying of hair Cardiomyopathy Intellectual disability, mild Congestive heart failure Talipes equinovarus Hypoplasia of penis Recurrent infections Delayed skeletal maturation Myeloid leukemia Pulmonary fibrosis Skin rash Chromosome breakage Renal insufficiency Malar flattening Micropenis Acute myeloid leukemia Fatigue Epicanthus Postnatal growth retardation Hypothyroidism Hodgkin lymphoma Telecanthus Epistaxis Hyperhidrosis Hypopigmented skin patches Intrauterine growth retardation Short nose Gastrointestinal hemorrhage IgA deficiency Hypermelanotic macule Keratitis IgG deficiency Macule Hypoplasia of the zygomatic bone Facial telangiectasia in butterfly midface distribution Freckling Flat nasal alae Frontal bossing Feeding difficulties Azoospermia Cleft palate Sacral dimple Reduced number of teeth Neoplasm of the eye Craniofacial hyperostosis Hand polydactyly Defective DNA repair after ultraviolet radiation damage Ankyloblepharon Papilloma Conjunctival telangiectasia Entropion High pitched voice Hypoplastic pelvis Melanocytic nevus Female infertility Developmental regression Mental deterioration EEG abnormality Photophobia Arthralgia Decreased fertility in females Spotty hypopigmentation Dry skin Spotty hyperpigmentation Fever Peripheral neuropathy Spasticity Neoplasm of the gastrointestinal tract Macrocephaly Microphthalmia Abnormality of extrapyramidal motor function Ectropion Chronic lung disease Pain Agenesis of maxillary lateral incisor Melanoma Reduced tendon reflexes Intellectual disability, progressive Opacification of the corneal stroma Aminoaciduria Choreoathetosis Chronic obstructive pulmonary disease Abnormality of the nose IgM deficiency Abnormal vertebral morphology Thickened skin Thin skin Vomiting Hamartoma Glaucoma Hyperpigmentation of the skin Epiphora Neonatal respiratory distress Anosmia Abnormal intestine morphology Leukopenia Sparse eyelashes Horseshoe kidney Truncal ataxia Sparse scalp hair Abnormality of coagulation Decreased fetal movement Cerebral calcification Gliosis Sepsis Cirrhosis Abnormality of skin pigmentation Carious teeth Muscular hypotonia of the trunk Hepatosplenomegaly Flared metaphysis Increased antibody level in blood Hypospadias Reticular hyperpigmentation Pterygium of nails Split nail Generalized hypopigmentation of hair Fragile teeth Brittle scalp hair Reticulated skin pigmentation Phimosis Abnormal leukocyte morphology Pancreatic adenocarcinoma Lacrimal duct stenosis Restrictive ventilatory defect Keratoconjunctivitis Esophageal stricture Excessive wrinkled skin Testicular atrophy Ridged nail Aplastic anemia Oral leukoplakia Premature loss of teeth Generalized hyperpigmentation Cerebellar hypoplasia Hypertonia Mandibular prognathia Microcornea Basal cell carcinoma Pyloric stenosis Sarcoma Short thumb Short palpebral fissure Microdontia Growth hormone deficiency Hypodontia Sinusitis Absent thumb Delayed eruption of teeth Short foot Small hand Short palm Flat face Corneal opacity Sparse hair Skeletal dysplasia Kyphoscoliosis Agenesis of permanent teeth Skin vesicle Ventriculomegaly Aplasia/Hypoplasia of the patella Visual impairment Generalized hypotonia Forearm reduction defects Zonular cataract Bilateral radial aplasia Juvenile cataract Annular pancreas Duodenal stenosis Iris atrophy Skin erosion Increased number of teeth Acantholysis Patellar aplasia Rectovaginal fistula Concave nasal ridge Osteosarcoma Absent radius Proportionate short stature Aplasia/Hypoplasia of the thumb Anteriorly placed anus Narrow face Syndactyly Cafe-au-lait spot Lymphadenopathy Severe combined immunodeficiency Biparietal narrowing Combined immunodeficiency Leukocytosis Psoriasiform dermatitis Low anterior hairline Dyspnea Thin vermilion border Malabsorption Bird-like facies Jaundice Abnormality of the nervous system Brachycephaly Upslanted palpebral fissure Stroke Hepatomegaly Delayed speech and language development Cough Abnormality of bone marrow cell morphology Large beaked nose Aplasia/Hypoplasia of the nipples Ascites Hemivertebrae Recurrent urinary tract infections Abnormality of the ribs Tetralogy of Fallot Headache Intestinal malrotation Vesicoureteral reflux Abdominal distention Pectus carinatum Abdominal pain Hydronephrosis Constipation Abnormal heart morphology Patent ductus arteriosus Pectus excavatum Dilatation Atrial septal defect Ventricular septal defect Chordee Hypoplastic nipples Cutis laxa Intussusception Hypoalbuminemia Portal hypertension Clubbing Colon cancer Hepatic vascular malformations Adenocarcinoma of the colon Duodenal adenocarcinoma Multiple gastric polyps Melena Hypokalemia Hematemesis Hamartomatous polyposis Stomach cancer Rectal prolapse Intestinal polyposis Clubbing of fingers Hematochezia Hemoptysis Hypertelorism Diplopia Vertigo Dental malocclusion Congenital sensorineural hearing impairment Bifid scrotum Abnormal dermatoglyphics Renal dysplasia Thick lower lip vermilion Renal hypoplasia Chest pain Wide intermamillary distance Everted lower lip vermilion Abnormal facial shape Stage 5 chronic kidney disease Blepharophimosis Wide mouth Intellectual disability, moderate Proteinuria Intellectual disability, severe Myopia Cyanosis Low-set ears Multicystic kidney dysplasia Abnormality of the urinary system Bronchiectasis Down-sloping shoulders Testicular dysgenesis Wide nasal base Poor wound healing Elevated circulating luteinizing hormone level Abnormality of the ovary Elevated circulating follicle stimulating hormone level Sparse pubic hair Abnormality of the testis Short clavicles Primary testicular failure Thoracic scoliosis Secondary amenorrhea Scleroderma Tricuspid regurgitation Premature ovarian insufficiency Bilateral ptosis Precocious puberty Lipodystrophy Sclerodactyly Puberty and gonadal disorders Ventricular tachycardia Dolichocephaly Abnormality of the face Hypertrichosis Specific learning disability Otitis media Prominent nose Decreased antibody level in blood Ichthyosis Infertility Finger syndactyly Myofiber disarray Protruding ear Polydactyly Diabetes mellitus Severe short stature Pneumonia Polycythemia Aplasia of the phalanges of the 3rd toe Thyroid hemiagenesis Polycystic ovaries Short chin Hydroureter Intestinal atresia Fetal ascites Urethral obstruction Megacystis Abnormality of the bladder Prune belly Abdominal wall defect Cervical ribs Urogenital sinus anomaly Miosis Dilatation of the bladder Volvulus Abnormality of the uterus 11 pairs of ribs Aplasia/Hypoplasia of the lungs Xerostomia Abnormality of the ureter Decreased fertility Vertebral segmentation defect Congenital posterior urethral valve Aplasia of the abdominal wall musculature Spontaneous abortion Full cheeks Hypergonadotropic hypogonadism Increased bone mineral density Abnormality of the genital system Mitral regurgitation Atrial fibrillation Cardiomegaly Amenorrhea Convex nasal ridge Wide nose Aplasia of the musculature Tachycardia Arachnodactyly Delayed puberty Dilated cardiomyopathy Microtia Retrognathia Osteopenia Arrhythmia Ptosis Anal mucosal leukoplakia


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