Failure to thrive, and Cryptorchidism

Diseases related with Failure to thrive and Cryptorchidism

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

Top matches:

46,XY disorder of sex development due to isolated 17,20-lyase deficiency is a rare disorder of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by ambiguous external genitalia, including micropenis, perineal hypospadias, bifid scrotum, cryptorchidism, and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol, and low basal and stimulated androgen levels.

Related symptoms:

  • Short stature
  • Failure to thrive
  • Cryptorchidism
  • Hypospadias
  • Delayed skeletal maturation


SOURCES: ORPHANET MENDELIAN

More info about 46,XY DISORDER OF SEX DEVELOPMENT DUE TO ISOLATED 17,20-LYASE DEFICIENCY

ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY Is also known as adrenal hyperplasia v|17-alpha-hydroxylase deficiency

Related symptoms:

  • Muscle weakness
  • Cryptorchidism
  • Hypertension
  • Myopathy
  • Headache


SOURCES: OMIM ORPHANET MENDELIAN

More info about ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW; CDG1W Is also known as cdgiw|cdg iw

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW; CDG1W

Other less relevant matches:

High match STT3B-CDG

STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. STT3B-CDG is caused by mutations in the gene STT3B (3p24.1).

STT3B-CDG Is also known as cdg syndrome type ix|congenital disorder of glycosylation type ix|cdg1x|carbohydrate deficient glycoprotein syndrome type ix|cdg-ix|congenital disorder of glycosylation type 1x

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about STT3B-CDG

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

High match STT3A-CDG

STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3).

STT3A-CDG Is also known as congenital disorder of glycosylation type 1w|congenital disorder of glycosylation type iw|cdgix|cdg ix|cdg1w|cdg-iw|cdg syndrome type iw

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about STT3A-CDG

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 59; RP59

Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk.

PITUITARY STALK INTERRUPTION SYNDROME Is also known as psis|ectopic neurohypophysis

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about PITUITARY STALK INTERRUPTION SYNDROME

Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.

XQ27.3Q28 DUPLICATION SYNDROME Is also known as trisomy xq27.3q28|dup(x)(q27.3q28)|xq27.3-q28 microduplication syndrome|trisomy xq27.3-q28

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about XQ27.3Q28 DUPLICATION SYNDROME

Dilated cardiomyopathy with ataxia (DCMA) is characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.

DILATED CARDIOMYOPATHY WITH ATAXIA Is also known as mga5|dcma|3-methylglutaconic aciduria type 5|cardiomyopathy, dilated, with ataxia|mga, type v|dcma syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DILATED CARDIOMYOPATHY WITH ATAXIA

Top 5 symptoms//phenotypes associated to Failure to thrive and Cryptorchidism

Symptoms // Phenotype % cases
Micropenis Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intrauterine growth retardation Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Failure to thrive and Cryptorchidism. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Feeding difficulties Optic atrophy Cerebellar atrophy Scrotal hypoplasia Thrombocytopenia Microcephaly Respiratory distress Hypoglycemia Growth delay Abnormal glycosylation Short stature Gynecomastia Hypospadias Decreased testicular size Primary amenorrhea

Rare Symptoms - Less than 30% cases

Sparse body hair Male pseudohermaphroditism Abnormality of the genital system Cardiomyopathy Muscle weakness Hypothyroidism Hypergonadotropic hypogonadism Hypotension Anemia Delayed puberty Delayed skeletal maturation Perineal hypospadias Decreased serum testosterone level Blindness Spasticity Hepatomegaly Adrenal hypoplasia Edema Rod-cone dystrophy Diabetes insipidus Hypertonia Elevated hepatic transaminase Hypoplasia of penis Renal insufficiency Jaundice Cystoid macular edema Ectopic posterior pituitary Macular edema Attenuation of retinal blood vessels Status epilepticus Pigmentary retinopathy Retinal degeneration Muscular hypotonia of the trunk Abnormality of the hypothalamus-pituitary axis Hypogonadism Septo-optic dysplasia Hypokinesia Postnatal growth retardation Dilated cardiomyopathy Hepatic steatosis Sudden cardiac death Aciduria Mitral regurgitation Prolonged QT interval Microcytic anemia Congestive heart failure 3-Methylglutaconic aciduria Microvesicular hepatic steatosis Nonprogressive cerebellar ataxia Glutaric aciduria Testicular dysgenesis Noncompaction cardiomyopathy 3-Methylglutaric aciduria Penile hypospadias Arrhythmia Motor delay Abnormality of the pituitary gland Bulbous nose Abnormal facial shape Muscular hypotonia Intellectual disability, mild Obesity Deeply set eye Neonatal hypotonia Small for gestational age Thin vermilion border Small hand Ataxia Short foot Specific learning disability Premature ovarian insufficiency High pitched voice Truncal obesity Increased circulating gonadotropin level Abdominal obesity Primary testicular failure Sensorineural hearing impairment Hyperpigmentation of the skin Hearing impairment Dysmenorrhea Ambiguous genitalia Amenorrhea Generalized muscle weakness Feeding difficulties in infancy Abnormality of metabolism/homeostasis Headache Myopathy Hypertension Decreased circulating androgen level Abnormality of creatine metabolism Abnormal sex determination Female external genitalia in individual with 46,XY karyotype Decreased fertility in males Hypoplasia of the vagina Primary gonadal insufficiency Hypokalemia Decreased fertility in females Enlarged polycystic ovaries Ambiguous genitalia, male Elevated circulating luteinizing hormone level Decreased serum estradiol Absence of secondary sex characteristics Elevated circulating follicle stimulating hormone level Sparse pubic hair Sparse axillary hair Decreased fertility Hypoplasia of the uterus Polycystic ovaries Reduced bone mineral density Osteoporosis Accelerated skeletal maturation Failure to thrive in infancy Impaired smooth pursuit Azoospermia Optic nerve hypoplasia Decreased liver function Hypernatriuria Hypoglycemic coma Increased circulating renin level Renal salt wasting Primary adrenal insufficiency Congenital hypothyroidism Hyperkalemia Adrenal insufficiency Apathy Hyponatremia Precocious puberty Shock Dehydration Bifid scrotum Decreased circulating renin level Secondary amenorrhea Increased circulating cortisol level Hyperaldosteronism Adrenal hyperplasia Alkalosis Metabolic alkalosis Congenital adrenal hyperplasia Coma Female pseudohermaphroditism Hypokalemic alkalosis Adrenogenital syndrome Neoplasm Vomiting Hypertrophic cardiomyopathy Normochromic microcytic anemia


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