Failure to thrive, and Abnormality of the genital system

Diseases related with Failure to thrive and Abnormality of the genital system

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

Top matches:

3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3-PHOSPHOSERINE PHOSPHATASE DEFICIENCY

Transient infantile hypertriglyceridemia and hepatosteatosis is a rare, genetic, hepatic disease characterized by massive hepatomegaly, moderate to severe, transient hypertriglyceridemia and hepatic steatosis (followed by fibrosis), manifesting in infancy with failure to thrive, vomiting, an enlarged abdomen and a fatty liver. Reduction or normalization of triglyceride serum levels occurs with advancing age.

TRANSIENT INFANTILE HYPERTRIGLYCERIDEMIA AND HEPATOSTEATOSIS Is also known as transient infantile hypertriglyceridemia and fatty liver

Related symptoms:

  • Short stature
  • Failure to thrive
  • Hepatomegaly
  • Vomiting
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about TRANSIENT INFANTILE HYPERTRIGLYCERIDEMIA AND HEPATOSTEATOSIS

Lipoid congenital adrenal hyperplasia, the most severe disorder of steroid hormone biosynthesis, is caused by a defect in the conversion of cholesterol to pregnenolone, the first step in adrenal and gonadal steroidogenesis. All affected individuals are phenotypic females with a severe salt-losing syndrome that is fatal if not treated in early infancy (summary by Lin et al., 1991 and Bose et al., 1996).

LIPOID CONGENITAL ADRENAL HYPERPLASIA; LCAH Is also known as adrenal hyperplasia i|lipoid hyperplasia, congenital, of adrenal cortex with male pseudohermaphroditism

Related symptoms:

  • Failure to thrive
  • Hypospadias
  • Polycystic ovaries
  • Hyponatremia
  • Hyperglycemia


SOURCES: OMIM MENDELIAN

More info about LIPOID CONGENITAL ADRENAL HYPERPLASIA; LCAH

Other less relevant matches:

PITUITARY HORMONE DEFICIENCY, COMBINED, 2; CPHD2 Is also known as panhypopituitarism|ateliotic dwarfism with hypogonadism|pituitary dwarfism iii|hanhart dwarfism

Related symptoms:

  • Seizures
  • Short stature
  • Growth delay
  • Failure to thrive
  • Severe short stature


SOURCES: OMIM MENDELIAN

More info about PITUITARY HORMONE DEFICIENCY, COMBINED, 2; CPHD2

COXPD34 is an autosomal recessive disorder resulting from a defect in mitochondrial function. The phenotype is variable, but may include congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction. Neurologic function is relatively preserved (summary by Menezes et al., 2015).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

SYNDROMIC SENSORINEURAL DEAFNESS DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT Is also known as syndromic sensorineural deafness due to coxpd|syndromic sensorineural hearing loss due to coxpd

Related symptoms:

  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment
  • Hepatomegaly
  • Vomiting


SOURCES: ORPHANET OMIM MENDELIAN

More info about SYNDROMIC SENSORINEURAL DEAFNESS DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT

Isolated hyperchlorhidrosis is an autosomal recessive condition in which excessive salt wasting in sweat can result in severe infantile hyponatremic dehydration and hyperkalemia (summary by Muhammad et al., 2011).

Related symptoms:

  • Failure to thrive
  • Feeding difficulties
  • Dilatation
  • Abnormality of metabolism/homeostasis
  • Hyperkeratosis


SOURCES: OMIM MENDELIAN

More info about HYPERCHLORHIDROSIS, ISOLATED; HYCHL

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

Low 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

Top 5 symptoms//phenotypes associated to Failure to thrive and Abnormality of the genital system

Symptoms // Phenotype % cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Micropenis Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Feeding difficulties Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hypospadias Short stature Intrauterine growth retardation Microcephaly Global developmental delay

Rare Symptoms - Less than 30% cases

Hyperaldosteronism Male pseudohermaphroditism Abnormality of metabolism/homeostasis Hypergonadotropic hypogonadism Primary amenorrhea Hypoglycemia Hypogonadism Adrenogenital syndrome Congenital adrenal hyperplasia Renal salt wasting Adrenal hyperplasia Hyperkalemia Hyponatremia Gynecomastia Polycystic ovaries Respiratory distress Cerebellar atrophy Hepatomegaly Optic atrophy Generalized hypotonia Thrombocytopenia Scrotal hypoplasia Vomiting Hepatic steatosis Abnormal glycosylation Increased body weight Growth delay Ambiguous genitalia, male Enlarged polycystic ovaries Elevated circulating luteinizing hormone level Decreased serum estradiol Decreased fertility in females Absence of secondary sex characteristics Sparse pubic hair Decreased serum testosterone level Elevated circulating follicle stimulating hormone level Dysmenorrhea Sparse axillary hair Sparse body hair Decreased fertility Hypoplasia of the uterus Reduced bone mineral density Primary gonadal insufficiency Female external genitalia in individual with 46,XY karyotype Hypoplasia of the vagina Ambiguous genitalia Alkalosis Perineal hypospadias Decreased circulating renin level Female pseudohermaphroditism Increased circulating cortisol level Secondary amenorrhea Hypokalemic alkalosis Bifid scrotum Failure to thrive in infancy Hypokalemia Amenorrhea Decreased fertility in males Generalized muscle weakness Feeding difficulties in infancy Headache Myopathy Hypertension Muscle weakness Decreased circulating androgen level Abnormality of creatine metabolism Abnormal sex determination Metabolic alkalosis Accelerated skeletal maturation Scarring Decreased testicular size Hyperglycemia Adrenocorticotropic hormone deficiency Panhypopituitarism Neonatal hypoglycemia Hypopituitarism Adrenal insufficiency Blue sclerae Growth hormone deficiency Hypothyroidism Severe short stature Increased serum estradiol Pancreatitis Prolactin deficiency Hepatic fibrosis Hypertriglyceridemia Abnormality of the cardiovascular system Abnormality of the liver Elevated hepatic transaminase Splenomegaly Absence seizures Brain atrophy Postnatal growth retardation Cerebral atrophy Hypertonia Hypoglycemic seizures Large sella turcica Delayed puberty Primary adrenal insufficiency Osteoporosis Delayed skeletal maturation Elevated sweat chloride Pseudohypoaldosteronism Bronchiectasis Dehydration Infertility Cough Hyperkeratosis Dilatation Congenital sensorineural hearing impairment Small pituitary gland Decreased liver function Pancytopenia Increased serum lactate Hepatic failure Lactic acidosis Encephalopathy Renal insufficiency Sensorineural hearing impairment Hearing impairment Craniopharyngioma Enlarged pituitary gland


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