Failure to thrive, and Delayed puberty

Diseases related with Failure to thrive and Delayed puberty

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

Top matches:

Related symptoms:

  • Short stature
  • Failure to thrive
  • Vomiting
  • Delayed skeletal maturation
  • Abdominal pain


SOURCES: OMIM MENDELIAN

More info about GROWTH HORMONE INSENSITIVITY, PARTIAL; GHIP

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

SC4MOL deficiency represents an inborn error of cholesterol metabolism that is characterized by accumulation of a large amount of methylsterols, particularly dimethylsterols, in affected patients. The associated features of immune dysregulation, skin disease, and growth delay can be at least partially corrected with cholesterol and statin supplements (He et al., 2014).

MICROCEPHALY-CONGENITAL CATARACT-PSORIASIFORM DERMATITIS SYNDROME Is also known as smo deficiency|sterol-c4-methyl oxidase deficiency|sc4mol deficiency

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROCEPHALY-CONGENITAL CATARACT-PSORIASIFORM DERMATITIS SYNDROME

Other less relevant matches:

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

Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB (see this term) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities.

RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA, GENERALIZED INTERMEDIATE Is also known as generalized mitis rdeb|autosomal recessive dystrophic epidermolysis bullosa generalisata mitis|autosomal recessive dystrophic epidermolysis bullosa, generalized other|rdeb, generalized intermediate|rdeb-generalized other|rdeb, non-hallopeau-siemens type|r

Related symptoms:

  • Failure to thrive
  • Anemia
  • Feeding difficulties
  • Dysphagia
  • Visual loss


SOURCES: ORPHANET MENDELIAN

More info about RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA, GENERALIZED INTERMEDIATE

Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin.

OBESITY DUE TO PRO-OPIOMELANOCORTIN DEFICIENCY Is also known as pomc deficiency|proopiomelanocortin deficiency

Related symptoms:

  • Seizures
  • Growth delay
  • Failure to thrive
  • Hepatomegaly
  • Obesity


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about OBESITY DUE TO PRO-OPIOMELANOCORTIN DEFICIENCY

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 adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension.

CONGENITAL ADRENAL HYPERPLASIA DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY Is also known as combined 17-hydroxylase/17,20-lyase deficiency|cah due to 17-alpha-hydroxylase deficiency

Related symptoms:

  • Short stature
  • Failure to thrive
  • Cryptorchidism
  • Hypertension
  • Hypospadias


SOURCES: ORPHANET MENDELIAN

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

Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterised by severe childhood obesity, hypoadrenalism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones.

OBESITY DUE TO PROHORMONE CONVERTASE I DEFICIENCY Is also known as obesity and endocrinopathy due to impaired processing of prohormones|pci deficiency

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Diarrhea
  • Obesity
  • Delayed skeletal maturation


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OBESITY DUE TO PROHORMONE CONVERTASE I DEFICIENCY

Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolite abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands.

Related symptoms:

  • Failure to thrive
  • Cryptorchidism
  • Feeding difficulties
  • Vomiting
  • Delayed skeletal maturation


SOURCES: ORPHANET MENDELIAN

More info about INHERITED ISOLATED ADRENAL INSUFFICIENCY DUE TO PARTIAL CYP11A1 DEFICIENCY

Top 5 symptoms//phenotypes associated to Failure to thrive and Delayed puberty

Symptoms // Phenotype % cases
Delayed skeletal maturation Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Hypoglycemia Uncommon - Between 30% and 50% cases
Decreased circulating cortisol level Uncommon - Between 30% and 50% cases
Cryptorchidism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Adrenal hypoplasia Primary amenorrhea Female external genitalia in individual with 46,XY karyotype Absence of secondary sex characteristics Elevated circulating luteinizing hormone level Ambiguous genitalia, male Gonadotropin deficiency Abnormal sex determination Decreased circulating androgen level Growth delay Male pseudohermaphroditism Primary adrenal insufficiency Hyponatremia Elevated circulating follicle stimulating hormone level Global developmental delay Decreased fertility Vomiting Reduced bone mineral density Gynecomastia Osteoporosis Micropenis Decreased testicular size

Rare Symptoms - Less than 30% cases

Hypogonadotrophic hypogonadism Neonatal hypoglycemia Polyphagia Adrenal insufficiency Hyperinsulinemia Seizures Anemia Hypothyroidism Acanthosis nigricans Hypotension Pituitary hypothyroidism Diabetes insipidus Dehydration Renal salt wasting Cholestasis Growth hormone deficiency Feeding difficulties Hypopigmentation of the skin Obesity Acidosis Increased circulating ACTH level Sparse body hair Red hair Hypogonadism Decreased circulating aldosterone level Hypoplasia of the uterus Sparse axillary hair Sparse pubic hair Polycystic ovaries Decreased serum testosterone level Decreased serum estradiol Hypergonadotropic hypogonadism Enlarged polycystic ovaries Decreased fertility in females Primary gonadal insufficiency Dysmenorrhea Hypoplasia of the vagina Decreased fertility in males Abnormality of creatine metabolism Congenital adrenal hyperplasia Generalized hyperpigmentation Hypospadias Childhood-onset truncal obesity Increased adipose tissue Central adrenal insufficiency Hypoglycemic seizures Adrenocorticotropic hormone excess Agenesis of corpus callosum Long penis Shock High-frequency hearing impairment Oligospermia Adrenal hyperplasia Azoospermia Schizophrenia Precocious puberty Congenital adrenal hypoplasia Abnormal spermatogenesis Villous atrophy Absence of pubertal development Hypernatriuria Hyperkalemia Sex reversal Aplasia of the uterus Abnormal vagina morphology Increased circulating renin level Urogenital sinus anomaly Hypovolemia Adrenal calcification Premature birth Abnormality of cholesterol metabolism Generalized bronze hyperpigmentation Abnormality of prenatal development or birth Abnormality of the Leydig cells Low maternal serum estriol Midshaft hypospadias Abnormal urine potassium concentration Clitoral hypertrophy Reactive hypoglycemia Adrenocortical hypoplasia Abnormal circulating aldosterone Hypertension Hypokalemia Aortic root aneurysm Abnormal EKG Hyperaldosteronism Decreased circulating renin level Hypervolemia Diarrhea Hypothalamic hypothyroidism Diabetes mellitus Malabsorption Amenorrhea Polydipsia Polyuria Glucose intolerance Maternal diabetes Accelerated skeletal maturation Mitten deformity Hyperpigmentation of the skin Psoriasiform dermatitis Septo-optic dysplasia Ectopic posterior pituitary Abnormality of the hypothalamus-pituitary axis Hypoplasia of penis Jaundice Intellectual disability Decreased LDL cholesterol concentration Hypocholesterolemia Immune dysregulation Blepharitis Erythroderma Inflammatory abnormality of the skin Dysphagia Ichthyosis Congenital cataract Arthralgia Intellectual disability, mild Flexion contracture Cataract Microcephaly Small pituitary gland Decreased serum insulin-like growth factor 1 Ketosis Decreased body weight Abdominal pain Abnormality of the pituitary gland Visual loss Asthma Ankyloglossia Muscular dystrophy Hearing impairment Abnormal eating behavior Adrenocorticotropic hormone deficiency Hyperbilirubinemia Increased body weight Hepatic failure Weight loss Hepatomegaly Abnormality of the anus Oral mucosal blisters Esophageal stricture Corneal erosion Constipation Aplasia cutis congenita Fragile skin Skin vesicle Atrophic scars Milia Squamous cell carcinoma Abnormality of the hair Carious teeth Hypotrichosis Nail dystrophy Narrow mouth Alopecia Induced vaginal delivery


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