Abnormality of the skeletal system, and Micropenis

Diseases related with Abnormality of the skeletal system and Micropenis

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


Top matches:

Low match X-LINKED MYOTUBULAR MYOPATHY-ABNORMAL GENITALIA SYNDROME


X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia.

X-LINKED MYOTUBULAR MYOPATHY-ABNORMAL GENITALIA SYNDROME Is also known as xq28 contiguous gene deletion syndrome

Related symptoms:

  • Myopathy
  • Hypospadias
  • Micropenis
  • Bifid scrotum


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about X-LINKED MYOTUBULAR MYOPATHY-ABNORMAL GENITALIA SYNDROME

Low match 46,XX SEX REVERSAL 4; SRXX4


46,XX SEX REVERSAL 4; SRXX4 Is also known as 46,xx sex reversal, sry-negative

Related symptoms:

  • Hypospadias
  • Hypogonadism
  • Micropenis
  • Decreased testicular size
  • Ambiguous genitalia


SOURCES: OMIM MENDELIAN

More info about 46,XX SEX REVERSAL 4; SRXX4

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Other less relevant matches:

Low match HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA; HH23


Male patients with hypogonadotropic hypogonadism due to isolated luteinizing hormone (LH) deficiency have normal sexual differentiation but fail to develop spontaneous puberty. Absence of LH alters Leydig cell proliferation and maturation and impairs the onset of normal spermatogenesis, which requires high levels of intratesticular testosterone. Infertility and very low levels of spermatogenesis generally persist in affected men despite long-term exposure to gonadotropin therapy. Female patients exhibit normal pubertal development and menarche, followed by oligomenorrhea and anovulatory secondary amenorrhea (summary by Basciani et al., 2012).For a general phenotypic description and discussion of genetic heterogeneity of hypogonadotropic hypogonadism, see {147950}. ReviewsArnhold et al. (2009) noted that the clinical manifestations of female patients with hypogonadotropic hypogonadism due to mutations in LHB are very similar to those of women with hypergonadotropic hypogonadism due to inactivating mutations of the LH receptor (see {238320}): all have female external genitalia, spontaneous development of normal pubic hair and breasts at puberty, and normal to late menarche followed by oligoamenorrhea and infertility. Pelvic ultrasound shows a small or normal uterus and normal or enlarged ovaries with cysts. However, women with LHB mutations can be treated with luteinizing hormone or chorionic gonadotropin (CG ) replacement therapy; women with LH receptor mutations are resistant to LH, and no treatment is effective in recovering their fertility.

HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA; HH23 Is also known as fertile eunuch syndrome|pasqualini syndrome

Related symptoms:

  • Abnormality of metabolism/homeostasis
  • Hypogonadism
  • Micropenis
  • Infertility
  • Decreased testicular size


SOURCES: OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA; HH23

Low match HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA; HH11


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}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA; HH11

Low match HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA; HH22


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 is 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 as well as a discussion of oligogenicity of this disorder, see {147950}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA; HH22

Low match DENYS-DRASH SYNDROME


Denys-Drash syndrome (DDS) is a rare urogenital disorder characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma.

DENYS-DRASH SYNDROME Is also known as drash syndrome|wilms tumor-disorder of sex development syndrome|wilms tumor-dsd syndrome

Related symptoms:

  • Neoplasm
  • Hypertension
  • Edema
  • Renal insufficiency
  • Micropenis


SOURCES: OMIM ORPHANET MENDELIAN

More info about DENYS-DRASH SYNDROME

Low match 46,XX SEX REVERSAL 2; SRXX2


46,XX SEX REVERSAL 2; SRXX2 Is also known as chromosome 17q24 duplication syndrome

Related symptoms:

  • Pain
  • Cryptorchidism
  • Abnormality of the skeletal system
  • Hypospadias
  • Micropenis


SOURCES: OMIM MENDELIAN

More info about 46,XX SEX REVERSAL 2; SRXX2

Low match ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY


Classic 3-beta-hydroxysteroid dehydrogenase deficiency is an autosomal recessive form of CAH characterized by a severe impairment of steroid biosynthesis in both the adrenals and the gonads, resulting in decreased excretion of cortisol and aldosterone and of progesterone, androgens, and estrogens by these tissues. Affected newborns exhibit signs and symptoms of glucocorticoid and mineralocorticoid deficiencies, which may be fatal if not diagnosed and treated early, especially in the severe salt-wasting form. Moreover, male newborns exhibit pseudohermaphroditism with incomplete masculinization of the external genitalia due to an impairment of androgen biosynthesis in the testis. In contrast, affected females exhibit normal sexual differentiation or partial virilization (summary by Rheaume et al., 1992).

ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY Is also known as adrenal hyperplasia ii|hsdb|3-beta-hsd deficiency

Related symptoms:

  • Hypospadias
  • Micropenis
  • Hirsutism
  • Amenorrhea
  • Ambiguous genitalia


SOURCES: OMIM MENDELIAN

More info about ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY

Low match HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA; HH16


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 as well as a discussion of oligogenicity of this disorder, see {147950}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA; HH16

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Micropenis

Symptoms // Phenotype % cases
Hypospadias Uncommon - Between 30% and 50% cases
Hypogonadism Uncommon - Between 30% and 50% cases
Decreased testicular size Uncommon - Between 30% and 50% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Bifid scrotum Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormality of the skeletal system and Micropenis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Ambiguous genitalia Amenorrhea Primary amenorrhea Sensorineural hearing impairment Gynecomastia Hearing impairment Anosmia Cleft palate Perineal hypospadias Azoospermia Infertility

Rare Symptoms - Less than 30% cases


Polycystic ovaries Male pseudohermaphroditism Decreased serum testosterone level Gonadal dysgenesis Hypogonadotrophic hypogonadism Testicular dysgenesis Microphallus Hypergonadotropic hypogonadism Hypoplasia of the uterus Sex reversal Hypoplasia of the vagina Ovotestis Pain Glomerulosclerosis Nephroblastoma Focal segmental glomerulosclerosis Hyposmia Gonadoblastoma Diffuse mesangial sclerosis Absent scrotum Steroid-resistant nephrotic syndrome Hypoplasia of penis Hirsutism Scrotal hypoplasia Premature pubarche Decreased fertility Renal salt wasting Abnormality of the uterus Elevated circulating follicle stimulating hormone level Urogenital sinus anomaly True hermaphroditism Abnormality of male internal genitalia Abnormal scrotal rugation Abnormality of the genital system Adrenal hyperplasia Insulin resistance Abnormality of the genitourinary system Myopathy Nephrotic syndrome Abnormal spermatogenesis Clitoral hypertrophy Penoscrotal hypospadias Primary testicular failure Hernia Abnormal heart morphology Tetralogy of Fallot Abnormality of metabolism/homeostasis Impotence Secondary amenorrhea Oligomenorrhea Sparse axillary hair Sparse pubic hair Ovarian cyst Eunuchoid habitus Nephropathy Enlarged ovaries Decreased circulating luteinizing hormone level Abnormality of the Leydig cells Androgen insufficiency Testicular microlithiasis Absence of pubertal development Breast aplasia Neoplasm Hypertension Edema Renal insufficiency Proteinuria Stage 5 chronic kidney disease Gonadotropin deficiency



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