Growth delay, and Micropenis

Diseases related with Growth delay and Micropenis

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

Top matches:

Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA (see this term) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth.

CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE IV Is also known as cda, type iv|cda type 4|congenital dyserythropoietic anemia due to klf1 mutation|cda iv|cdan4|congenital dyserythropoietic anemia type 4|cda type iv|cda due to klf1 mutation

Related symptoms:

  • Short stature
  • Hypertelorism
  • Anemia
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE IV

Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'For a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see {147950}.

HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA; HH12 Is also known as figd|eunuchoidism, familial hypogonadotropic|gonadotropin deficiency, familial idiopathic

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • Cryptorchidism
  • Hypogonadism


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA; HH12

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

Other less relevant matches:

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

Medium 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

Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.

POSTAXIAL POLYDACTYLY-ANTERIOR PITUITARY ANOMALIES-FACIAL DYSMORPHISM SYNDROME Is also known as pallister-hall syndrome 2, formerly|culler-jones syndrome|phs2, formerly

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about POSTAXIAL POLYDACTYLY-ANTERIOR PITUITARY ANOMALIES-FACIAL DYSMORPHISM SYNDROME

46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype.

46,XY PARTIAL GONADAL DYSGENESIS Is also known as 46,xy partial testicular dysgenesis|46,xy pgd

Related symptoms:

  • Cryptorchidism
  • Abnormality of cardiovascular system morphology
  • Hypospadias
  • Delayed skeletal maturation
  • Osteoporosis


SOURCES: ORPHANET MENDELIAN

More info about 46,XY PARTIAL GONADAL DYSGENESIS

Medium 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

Top 5 symptoms//phenotypes associated to Growth delay and Micropenis

Symptoms // Phenotype % cases
Cryptorchidism Very Common - Between 80% and 100% cases
Failure to thrive Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Growth delay and Micropenis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Primary amenorrhea Intellectual disability Generalized hypotonia Feeding difficulties Intrauterine growth retardation Delayed puberty Microcephaly Optic atrophy Respiratory distress Cerebellar atrophy Delayed skeletal maturation Scrotal hypoplasia Absence of secondary sex characteristics Decreased serum estradiol Abnormal glycosylation Decreased testicular size Thrombocytopenia Hypospadias

Rare Symptoms - Less than 30% cases

Hypogonadism Elevated circulating follicle stimulating hormone level Elevated circulating luteinizing hormone level Decreased fertility in females Primary gonadal insufficiency Hypoplasia of the vagina Abnormal sex determination Edema Sparse axillary hair Hepatomegaly Anemia Cleft palate Hypoplasia of penis Diabetes insipidus Ectopic posterior pituitary Sparse pubic hair Female external genitalia in individual with 46,XY karyotype Hypergonadotropic hypogonadism Sensorineural hearing impairment Hearing impairment Gynecomastia Osteoporosis Decreased serum testosterone level Hypoplasia of the uterus Microphallus Increased circulating gonadotropin level Streak ovary Adrenal hypoplasia Decreased testosterone in males Urogenital sinus anomaly Abnormal vagina morphology Gonadoblastoma Adrenal insufficiency Gonadal dysgenesis Male infertility Hypotension Abnormality of the hypothalamus-pituitary axis Clitoral hypertrophy Nephroblastoma Azoospermia Nephrotic syndrome Septo-optic dysplasia Ambiguous genitalia Abnormality of cardiovascular system morphology Abnormality of the scrotum Hypoglycemia Abnormal internal genitalia Hypertonia Pigmentary retinopathy Retinal degeneration Muscular hypotonia of the trunk Elevated hepatic transaminase Attenuation of retinal blood vessels Macular edema Rod-cone dystrophy Renal insufficiency Cystoid macular edema Hypothyroidism Jaundice Status epilepticus Blindness Anterior pituitary hypoplasia Spasticity Impaired smooth pursuit Optic nerve hypoplasia Decreased liver function Abnormality of the labia Vanishing testis Testicular gonadoblastoma Ovarian gonadoblastoma Bilateral postaxial polydactyly Oral cleft Adrenocorticotropic hormone deficiency Polycystic ovaries Decreased circulating androgen level Abnormality of creatine metabolism Decreased fertility in males Dysmenorrhea Enlarged polycystic ovaries Ambiguous genitalia, male Male pseudohermaphroditism Sparse body hair Decreased fertility Reduced bone mineral density Reticulocytosis Fetal distress Normochromic anemia Decreased circulating gonadotropin level Absent pubic hair Hypoplasia of the ovary Gonadotropin deficiency Congenital hypoplastic anemia Erythroid hyperplasia Anosmia Hypogonadotrophic hypogonadism Anemia of inadequate production Hyperbilirubinemia Panhypopituitarism Cleft lip Poor appetite Hypopituitarism High pitched voice Bilateral cryptorchidism Holoprosencephaly Depressed nasal ridge Hypotelorism Growth hormone deficiency Postaxial polydactyly Cleft upper lip Polydactyly Wide anterior fontanel Abdominal pain Midface retrusion Depressed nasal bridge Pain Abnormality of the genital system Hypertelorism Cardiomyopathy Splenomegaly Hypertrophic cardiomyopathy Hydrops fetalis Abnormality of the pituitary gland


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