Cryptorchidism, and Edema

Diseases related with Cryptorchidism and Edema

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

Top matches:

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 59; RP59

Multisystemic smooth muscle dysfunction syndrome is a rare, genetic, vascular disease characterized by congenital dysfunction of smooth muscle throughout the body, manifesting with cerebrovascular disease, aortic anomalies, intestinal hypoperistalsis, hypotonic bladder, and pulmonary hypertension. Congenital mid-dilated pupils non-reactive to light associated with a large, persistent patent ductus arteriosus are characteristic hallmarks of the disease.

MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME Is also known as mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy

Related symptoms:

  • Global developmental delay
  • Cryptorchidism
  • Hypertension
  • Hypoplasia of the corpus callosum
  • Edema


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME

Porencephaly-microcephaly-bilateral congenital cataract syndrome is a rare, genetic, central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Cataract
  • Cryptorchidism
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about PORENCEPHALY-MICROCEPHALY-BILATERAL CONGENITAL CATARACT SYNDROME

Other less relevant matches:

Familial glucocorticoid deficiency is a rare autosomal recessive disorder characterized by an inability of the adrenal cortex to produce cortisol in response to stimulation by adrenocorticotropic hormone (ACTH). Affected individuals typically present within the first few months of life with symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, hypoglycemia, convulsions, and shock. The disease is life-threatening if untreated (summary by Meimaridou et al., 2012).For a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 (OMIM ).

Related symptoms:

  • Seizures
  • Neoplasm
  • Failure to thrive
  • Cryptorchidism
  • Cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY; GCCD4

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 6; NS6

Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.

SCHNECKENBECKEN DYSPLASIA Is also known as chondrodysplasia with snail-like pelvis|slc35d1-cdg|chondrodysplasia, lethal neonatal, with snail-like pelvis

Related symptoms:

  • Cleft palate
  • Cryptorchidism
  • Brachydactyly
  • Macrocephaly
  • Short neck


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SCHNECKENBECKEN DYSPLASIA

McKusick-Kaufman syndrome is an autosomal recessive disorder characterized by genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations (summary by Schaefer et al., 2011).

MCKUSICK-KAUFMAN SYNDROME; MKKS Is also known as hydrometrocolpos syndrome|kaufman-mckusick syndrome|hmcs|hydrometrocolpos, postaxial polydactyly, and congenital heart malformation

Related symptoms:

  • Cryptorchidism
  • Abnormality of the skeletal system
  • Respiratory distress
  • Edema
  • Syndactyly


SOURCES: OMIM MENDELIAN

More info about MCKUSICK-KAUFMAN SYNDROME; MKKS

Intellectual developmental disorder with dysmorphic facies and ptosis is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and dysmorphic facial features, most notably ptosis/blepharophimosis. Additional features may include poor growth, hypotonia, and seizures (summary by Mattioli et al., 2017).See also chromosome 3p deletion syndrome (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS; IDDDFP

Congenital adrenal hypoplasia (AHC) is a rare disorder that can be inherited in an X-linked or autosomal recessive (see {240200}) pattern. In X-linked AHC, primary adrenocortical failure occurs because the adrenal glands lack the permanent adult cortical zone. The remaining cells are termed 'cytomegalic' because they are larger than typical fetal adrenal cells (Hay et al., 1981; Reutens et al., 1999).Patients with AHC usually present in early infancy with primary adrenal failure. Hypogonadotropic hypogonadism (HHG) is a hallmark of the disorder, and is recognized during adolescence because of the absence or interruption of normal pubertal development. Abnormal spermatogenesis has also been observed in these patients. Milder forms of the disease have been described, with adrenal insufficiency sometimes occurring in childhood or even early adulthood. A few cases of partial HHG have been reported (summary by Raffin-Sanson et al., 2013). Transient precocious sexual development in infancy or early childhood can be a prominent feature of AHC (Landau et al., 2010).A contiguous gene syndrome involving a combination of congenital adrenal hypoplasia, glycerol kinase deficiency (OMIM ), and Duchenne muscular dystrophy (DMD ) is caused by deletion of multiple genes on chromosome Xp21 (see {300679}).

CYTOMEGALIC CONGENITAL ADRENAL HYPOPLASIA Is also known as ahch|cytomegalic adrenocortical hypoplasia|x-linked congenital adrenal hypoplasia|adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism|ahc with isolated gonadotropin deficiency|addison disease, x-linked|ahx|ahc with hhg

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Failure to thrive
  • Cryptorchidism
  • Vomiting


SOURCES: OMIM ORPHANET MENDELIAN

More info about CYTOMEGALIC CONGENITAL ADRENAL HYPOPLASIA

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

Top 5 symptoms//phenotypes associated to Cryptorchidism and Edema

Symptoms // Phenotype % cases
Global developmental delay Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Vomiting Generalized hypotonia Abnormality of the cerebral white matter Hyponatremia

Rare Symptoms - Less than 30% cases

Precocious puberty Adrenal insufficiency Hypertrophic cardiomyopathy Azoospermia Hyperpigmentation of the skin Dehydration Renal salt wasting Hypoglycemia Primary adrenal insufficiency Ptosis Intellectual disability Short stature Hypertelorism Polydactyly Delayed speech and language development Epicanthus Wide nasal bridge Macrocephaly Downslanted palpebral fissures Broad forehead Bilateral ptosis Lymphedema Accelerated skeletal maturation Cardiomyopathy Shock Asthma Spasticity Rod-cone dystrophy Micropenis Dilatation Hypoplasia of the corpus callosum Feeding difficulties Intrauterine growth retardation Sensorineural hearing impairment Hepatomegaly Polycystic kidney dysplasia Tracheoesophageal fistula Hydroureter Esophageal atresia Edema of the lower limbs Nonimmune hydrops fetalis Congenital adrenal hyperplasia Rectovaginal fistula Congenital hip dislocation Chordee Penoscrotal hypospadias Hydrometrocolpos Transverse vaginal septum Mesoaxial hand polydactyly Prominent scrotal raphe Vesicovaginal fistula Pelvic mass Enterocolitis Protein-losing enteropathy Vaginal atresia Hydrops fetalis Abnormal vertebral morphology Obesity Severe hydrops fetalis Dumbbell-shaped long bone Unossified vertebral bodies Advanced tarsal ossification Increased fibular diameter Snail-like ilia Abnormality of the skeletal system Respiratory distress Syndactyly Abnormality of cardiovascular system morphology Hypospadias Aganglionic megacolon Hydronephrosis Anal atresia Pulmonary hypoplasia Postaxial polydactyly Abdominal distention Amenorrhea Tetralogy of Fallot Postaxial hand polydactyly Primary amenorrhea Choanal atresia Hydrocolpos Strabismus Villous atrophy Hypogonadism Joint hypermobility Flat face Downturned corners of mouth Round face Language impairment Vertebral fusion Abnormal spermatogenesis Delayed ability to walk Abnormal myelination Unilateral cryptorchidism Muscular dystrophy Blepharophimosis Delayed puberty Hypogonadotrophic hypogonadism Schizophrenia Adrenal hypoplasia Adrenal hyperplasia Oligospermia Decreased circulating cortisol level High-frequency hearing impairment Gonadotropin deficiency Long penis Short philtrum Congenital adrenal hypoplasia Microcephaly Sepsis Decreased circulating aldosterone level Abnormal facial shape Malnutrition Hypoalbuminemia Hypercholesterolemia Abnormal intestine morphology Talipes equinovarus Anteverted nares Long philtrum Hyperlipidemia Agenesis of corpus callosum Absence of pubertal development Narrow mouth Metabolic acidosis Gastroesophageal reflux Acidosis Diarrhea Anterior rib cupping Pain Camptodactyly Abnormality of the pinna Adrenocortical hypoplasia Wide mouth Advanced ossification of carpal bones Dolichocephaly Hypoplastic vertebral bodies Abnormality of the kidney Hypoperistalsis Periventricular white matter hyperdensities Cystic lung disease Retinal infarction Hyperperistalsis Cataract Hyperreflexia Ventriculomegaly Cerebellar hypoplasia Congenital cataract Thoracic aortic aneurysm Cerebral calcification Progressive neurologic deterioration Postnatal microcephaly Ectopic kidney Cystic renal dysplasia Neoplasm Hypothyroidism Coma Hypotension Apathy Mydriasis Colpocephaly Congenital hypothyroidism Macular edema Blindness Hypertonia Renal insufficiency Elevated hepatic transaminase Muscular hypotonia of the trunk Retinal degeneration Pigmentary retinopathy Status epilepticus Attenuation of retinal blood vessels Cystoid macular edema Abnormality of the vasculature Hypertension Patent ductus arteriosus Stroke Intestinal malrotation Coarctation of aorta Pulmonary arterial hypertension Abnormal lung morphology Tachypnea Cholelithiasis Dilatation of the cerebral artery Hyperkalemia Increased circulating renin level Vertebral hypoplasia Spontaneous abortion Severe short stature Polyhydramnios Skeletal dysplasia Platyspondyly Narrow chest Micromelia Abnormality of the metaphysis Abnormal form of the vertebral bodies Short ribs Abnormality of the fingernails Malar flattening Disproportionate short-limb short stature Metaphyseal irregularity Hypoplastic toenails Fibular hypoplasia Hypoplastic scapulae Flat acetabular roof Ovoid vertebral bodies Hypoplastic ilia Diaphyseal thickening Lateral clavicle hook Midface retrusion Short neck Hypoglycemic coma Leukemia Hypernatriuria Low-set ears Motor delay Depressed nasal bridge Myopia Intellectual disability, mild Abnormal heart morphology Hyperkeratosis High forehead Sparse hair Pulmonic stenosis Brachydactyly Webbed neck Growth hormone deficiency Cafe-au-lait spot Relative macrocephaly Curly hair Broad neck Asymmetry of the thorax Long eyebrows Juvenile myelomonocytic leukemia Cleft palate Intractable diarrhea


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