Cryptorchidism, and Sepsis

Diseases related with Cryptorchidism and Sepsis

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

Top matches:

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder (megacystis), microcolon and decreased or absent intestinal peristalsis.

MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME Is also known as mmihs|megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome|berdon syndrome

Related symptoms:

  • Cryptorchidism
  • Abnormality of cardiovascular system morphology
  • Polyhydramnios
  • Umbilical hernia
  • Nausea and vomiting


SOURCES: ORPHANET MENDELIAN

More info about MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME

The urofacial syndrome (UFS) is a rare autosomal recessive disease characterized by a severe and early-onset form of dysfunctional urinary voiding. Affected individuals usually present prenatally or in early childhood with grossly distorted renal tracts, comprising dysmorphic bladders and dilatation of the ureter and renal pelvis. They are at high risk of vesicoureteral reflux (VUR), with ascending bacterial infection leading to kidney damage, hypertension, and renal failure. One-third of UFS children also experience constipation or fecal soiling, suggesting that the pathophysiology of the syndrome encompasses a broader functional impairment of elimination. In addition, affected individuals have a characteristic facial grimace when trying to smile (summary by Daly et al., 2010). Genetic Heterogeneity of Urofacial SyndromeUrofacial syndrome-2 (UFS2 ) is caused by mutation in the LRIG2 gene (OMIM ) on chromosome 1p13.

UROFACIAL SYNDROME 1; UFS1 Is also known as facial palsy, partial, with urinary abnormalities|ochoa syndrome|hydronephrosis with peculiar facial expression|urofacial syndrome|inverted smile and occult neuropathic bladder|ufs

Related symptoms:

  • Abnormal facial shape
  • Pain
  • Cryptorchidism
  • Hypertension
  • Fever


SOURCES: OMIM MENDELIAN

More info about UROFACIAL SYNDROME 1; UFS1

Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema.

CONGENITAL CHRONIC DIARRHEA WITH PROTEIN-LOSING ENTEROPATHY Is also known as congenital chronic diarrhea with exudative enteropathy

Related symptoms:

  • Pain
  • Vomiting
  • Diarrhea
  • Acidosis
  • Metabolic acidosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CHRONIC DIARRHEA WITH PROTEIN-LOSING ENTEROPATHY

Other less relevant matches:

High match ICF SYNDROME

The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.

ICF SYNDROME Is also known as centromeric instability, immunodeficiency syndrome|immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16|ciid|immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency syndrome, variable

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICF SYNDROME

Autosomal recessive cutis laxa type IID (ARCL2D) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular and neurologic involvement (summary by Van Damme et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D

High match MIRAGE SYNDROME

MIRAGE syndrome is a form of syndromic adrenal hypoplasia, characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. The condition is often fatal within the first decade of life, usually as a result of invasive infection (Narumi et al., 2016).

MIRAGE SYNDROME Is also known as myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome|myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome|myelodysplasia, infection, restriction of gr

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Cryptorchidism


SOURCES: OMIM ORPHANET MENDELIAN

More info about MIRAGE SYNDROME

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4

High match MENKES DISEASE

Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.

MENKES DISEASE Is also known as steely hair syndrome|md|trichopoliodystrophy|mnk|menkes syndrome|steely hair disease|copper transport disease|mk|kinky hair syndrome|x-linked copper deficiency|kinky hair disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MENKES DISEASE

Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE Is also known as eds vi|eds6|ehlers-danlos syndrome, oculoscoliotic type|ehlers-danlos syndrome, ocular-scoliotic type|eds, oculoscoliotic type|eds6a, formerly|nevo syndrome|eds via|ehlers-danlos syndrome, type vi|ehlers-danlos syndrome, type via, formerly|eds, kyphoscoli

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE

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 Sepsis

Symptoms // Phenotype % cases
Global developmental delay Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Hernia Uncommon - Between 30% and 50% cases
Motor delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Generalized hypotonia Seizures Diarrhea Anemia Intellectual disability Sparse scalp hair Hypospadias Low-set ears Thrombocytopenia Muscle weakness Pneumonia Joint laxity Lymphopenia Respiratory distress Growth delay Talipes equinovarus Inguinal hernia Intracranial hemorrhage Leukopenia Cutis laxa Abnormal intestine morphology Intrauterine growth retardation Osteoporosis Umbilical hernia Dilatation Gastrointestinal hemorrhage

Rare Symptoms - Less than 30% cases

Hydroureter Joint dislocation Hypopigmentation of the skin Joint hyperflexibility Respiratory insufficiency Shawl scrotum Kyphosis Recurrent pneumonia Recurrent urinary tract infections Cataract Abnormal facial shape Hepatosplenomegaly Pain Pectus carinatum Neurodegeneration Malabsorption Single transverse palmar crease Recurrent respiratory infections Hypertension Strabismus Hearing impairment Flexion contracture Chronic diarrhea Scoliosis Patent ductus arteriosus Hypoglycemia Decreased fetal movement Disproportionate tall stature Decreased testicular size Oligohydramnios Mask-like facies Hyperpigmentation of the skin Immunodeficiency Recurrent bacterial infections Gliosis Nausea and vomiting Myelodysplasia Congestive heart failure Atrial septal defect Esophageal stricture Ventriculomegaly Wide nasal bridge Recurrent infections Bronchiectasis Abnormality of lipid metabolism Hydronephrosis Pectus excavatum Bladder diverticulum Hyponatremia Urethral stenosis Malnutrition Muscular hypotonia Atypical scarring of skin Hypertelorism Visual impairment Premature loss of teeth Hypertonia Micrognathia Epicanthus Hyperextensible skin Depressed nasal bridge Generalized muscle weakness Microcornea Polyneuropathy Bruising susceptibility Retinal detachment Prominent occiput Joint hypermobility Abnormality of the face Trichorrhexis nodosa Venous insufficiency Arterial stenosis Abnormal bleeding Prolonged neonatal jaundice Esotropia High myopia Chondrocalcinosis Pili torti Unsteady gait Overgrowth Mitral valve prolapse Woolly hair Bowing of the long bones Hypothermia Tarsal synostosis Exostoses Hypopigmentation of hair Aplasia/Hypoplasia of the abdominal wall musculature Coarse hair Spontaneous hematomas Shock Blindness Edema Abnormal palate morphology Prominent forehead Glaucoma Metaphyseal widening Cerebral hemorrhage Opisthotonus Kyphoscoliosis Myopathic facies Gait disturbance Osteopenia Myopia Pes planus Neonatal hypotonia Thickened skin Hyperlordosis Retinopathy Dolichocephaly Spastic tetraparesis Therapeutic abortion Metaphyseal spurs Osteomyelitis Abnormal carotid artery morphology Hypocupremia Multiple joint dislocation Wormian bones Abnormality of metabolism/homeostasis Talipes Arachnodactyly Myopathy Generalized joint laxity Blue sclerae Anosmia Abnormality of coagulation Premature graying of hair Pulmonary fibrosis Flared metaphysis Squamous cell carcinoma Epiphora Neonatal respiratory distress Pterygium Dermal atrophy Sparse eyelashes Restrictive ventilatory defect Conjunctivitis Horseshoe kidney Bone marrow hypocellularity Truncal ataxia Telangiectasia Pancytopenia Cerebral calcification Cirrhosis Abnormality of skin pigmentation Carious teeth Increased antibody level in blood Myeloid leukemia Small for gestational age 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 Acute myeloid leukemia Keratoconjunctivitis Excessive wrinkled skin Testicular atrophy Ridged nail Aplastic anemia Oral leukoplakia Chromosome breakage Blepharitis Hodgkin lymphoma Generalized hyperpigmentation Nail dystrophy Leukemia Thin skin Aortic aneurysm Choreoathetosis Aortic dissection Soft skin Aortic root aneurysm Keratoconus Slender finger Abnormality of the hip bone Atrophic scars Heart murmur Corneal dystrophy Lens luxation Aortic regurgitation Torticollis Spina bifida occulta Hyperbilirubinemia Increased body weight Spina bifida Joint contracture of the hand Insulin resistance Tall stature Dental crowding Subcutaneous hemorrhage Thoracic kyphoscoliosis Postnatal growth retardation Ataxia Muscular hypotonia of the trunk Carcinoma Cerebral cortical atrophy Hyperhidrosis Cerebellar hypoplasia Alopecia Hyporeflexia Abnormality of the dentition Optic atrophy Neoplasm Progressive congenital scoliosis Keloids Spontaneous rupture of the globe Molluscoid pseudotumors Arterial rupture Decreased pulmonary function Moderate myopia Wrist drop Premature rupture of membranes Palmoplantar cutis laxa Arterial dissection Dural ectasia Abnormality of the metaphysis Long fingers Progressive neurologic deterioration Malar flattening Sinusitis Otitis media Decreased antibody level in blood Macroglossia Flat face Respiratory tract infection High forehead Short nose Bronchitis Anteverted nares Macrocephaly Intractable diarrhea Enterocolitis Protein-losing enteropathy Villous atrophy Hypoalbuminemia Hypercholesterolemia Combined immunodeficiency Protruding tongue Metabolic acidosis Ventricular septal defect Protruding ear Camptodactyly Hypertrophic cardiomyopathy Retrognathia Macrotia Micropenis Cardiomyopathy Hypoplasia of the corpus callosum Downslanted palpebral fissures Agammaglobulinemia Delayed speech and language development Impaired T cell function Abnormality of neutrophils Decrease in T cell count Abnormality of chromosome stability Cellular immunodeficiency Chronic bronchitis Communicating hydrocephalus Hyperlipidemia Acidosis Bulbous nose Neoplasm of the heart Hematuria Nephropathy Stage 5 chronic kidney disease Proteinuria Constipation Renal insufficiency Fever Hypoperistalsis Urinary incontinence Megacystis Microcolon Abnormality of the gastrointestinal tract Multicystic kidney dysplasia Omphalocele Intestinal malrotation Abdominal distention Polyhydramnios Vesicoureteral reflux Polydipsia Vomiting Pyelonephritis Nocturnal lagophthalmos Abnormal facial expression Encopresis Urethral valve Urethral obstruction Enuresis nocturna Mild proteinuria Facial grimacing Urinary retention Clubbing Neurogenic bladder Wolff-Parkinson-White syndrome Enuresis Dysuria Keratoconjunctivitis sicca Acute kidney injury Polyuria Keratitis Blepharophimosis Polymicrogyria Fine hair Hypoplasia of the thymus Cor triatriatum Neonatal sepsis Intermittent thrombocytopenia Monocytosis Erythroid hypoplasia Congenital neutropenia Giant platelets Prominent superficial veins Dysarthria Varicose veins Iron deficiency anemia Abnormality of cardiovascular system morphology Unilateral renal agenesis Failure to thrive in infancy Tented upper lip vermilion Plagiocephaly Broad thumb Spasticity Fatigue Pulmonary arterial hypertension Severe global developmental delay Tetraparesis Intellectual disability, profound Generalized-onset seizure Chorea Full cheeks Recurrent fractures Dry skin Narrow chest Sparse hair Intellectual disability, severe Feeding difficulties in infancy Developmental regression Jaundice Brachycephaly Dementia Cerebral atrophy Behavioral abnormality Cerebellar atrophy Mitral regurgitation Renal agenesis Triangular face Cavum septum pellucidum Hypergonadotropic hypogonadism Decreased body weight Paraplegia Gastroesophageal reflux Hydrocephalus Narrow naris Wide nasal base Entropion Rocker bottom foot Bundle branch block Right bundle branch block Focal impaired awareness seizure Narrow palpebral fissure Pointed chin Sloping forehead Convex nasal ridge Focal-onset seizure Meningitis Adrenal insufficiency Asthma Cleft palate Tapered finger Neutropenia Pulmonic stenosis Clinodactyly Midface retrusion Splenomegaly Hepatomegaly High palate Sensorineural hearing impairment Hyperkalemia Hypoplastic spleen Radial club hand Microphallus Achalasia Overlapping fingers Aspiration pneumonia Adrenal hypoplasia Petechiae Anal mucosal leukoplakia


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Hyperhidrosis, related diseases and genetic alterations Dysarthria and Sparse hair, related diseases and genetic alterations Hepatomegaly and Dysphagia, related diseases and genetic alterations Hyperreflexia and Cutaneous photosensitivity, related diseases and genetic alterations Edema and Ichthyosis, related diseases and genetic alterations High palate and Polycystic kidney dysplasia, related diseases and genetic alterations