Abnormality of the skeletal system, and Delayed puberty

Diseases related with Abnormality of the skeletal system and Delayed puberty

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


Top matches:

Low match SICKLE CELL-BETA-THALASSEMIA DISEASE SYNDROME


SICKLE CELL-BETA-THALASSEMIA DISEASE SYNDROME Is also known as hbs-beta-thalassemia syndrome

Related symptoms:

  • Pain
  • Anemia
  • Hypertension
  • Pneumonia
  • Jaundice


SOURCES: ORPHANET MENDELIAN

More info about SICKLE CELL-BETA-THALASSEMIA DISEASE SYNDROME

Low match SHORT STATURE DUE TO PARTIAL GHR DEFICIENCY


Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone.

SHORT STATURE DUE TO PARTIAL GHR DEFICIENCY Is also known as short stature due to partial growth hormone receptor deficiency

Related symptoms:

  • Short stature
  • Growth delay
  • Midface retrusion
  • Delayed skeletal maturation
  • Hypoglycemia


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE DUE TO PARTIAL GHR DEFICIENCY

Low match OVARIAN DYSGENESIS 2; ODG2


Hypergonadotropic ovarian failure is a heterogeneous disorder that, in the most severe forms, is a result of ovarian dysgenesis. Ovarian dysgenesis accounts for about half the cases of primary amenorrhea (Timmreck and Reindollar, 2003). Most cases are associated with major X chromosome abnormalities. Accordingly, genetic studies have identified several loci at Xq and Xp11.2-p.22.1 whose functions are relevant for ovarian development (Zinn et al., 1998; Simpson and Rajkovic, 1999; Marozzi et al., 2000).

OVARIAN DYSGENESIS 2; ODG2 Is also known as ovarian dysgenesis, hypergonadotropic, x-linked|ovarian failure, hypergonadotropic, due to ovarian dysgenesis

Related symptoms:

  • Delayed puberty
  • Hirsutism
  • Amenorrhea
  • Primary amenorrhea
  • Hypergonadotropic hypogonadism


SOURCES: OMIM MESH MENDELIAN

More info about OVARIAN DYSGENESIS 2; ODG2

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Other less relevant matches:

Low match SHORT STATURE DUE TO GHSR DEFICIENCY


Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported.

SHORT STATURE DUE TO GHSR DEFICIENCY Is also known as ghrelin receptor deficiency|short stature due to growth hormone secretagogue receptor deficiency

Related symptoms:

  • Short stature
  • Growth delay
  • Vomiting
  • Delayed skeletal maturation
  • Abdominal pain


SOURCES: ORPHANET MENDELIAN

More info about SHORT STATURE DUE TO GHSR DEFICIENCY

Low match CRYPTORCHIDISM, UNILATERAL OR BILATERAL


Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).

CRYPTORCHIDISM, UNILATERAL OR BILATERAL Is also known as undescended testis

Related symptoms:

  • Cryptorchidism
  • Hypogonadism
  • Abnormality of the kidney
  • Infertility
  • Renal agenesis


SOURCES: OMIM MENDELIAN

More info about CRYPTORCHIDISM, UNILATERAL OR BILATERAL

Low match X-LINKED CENTRAL CONGENITAL HYPOTHYROIDISM WITH LATE-ONSET TESTICULAR ENLARGEMENT


X-linked central congenital hypothyroidism with late-onset testicular enlargement is a rare, genetic, endocrine disease characterized by central hypothyroidism, testis enlargement in adolescence resulting in adult macroorchidism, delayed pubertal testosterone rise with a subsequent delayed pubertal growth spurt, small thyroid gland, and variable prolactin and growth hormone deficiency.

X-LINKED CENTRAL CONGENITAL HYPOTHYROIDISM WITH LATE-ONSET TESTICULAR ENLARGEMENT Is also known as igsf1 deficiency syndrome|x-linked central congenital hypothyroidism with late-onset macroorchidism

Related symptoms:

  • Growth delay
  • Hypoplasia of the corpus callosum
  • Hypothyroidism
  • Delayed puberty
  • Overweight


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED CENTRAL CONGENITAL HYPOTHYROIDISM WITH LATE-ONSET TESTICULAR ENLARGEMENT

Low match PREMATURE OVARIAN FAILURE 2B; POF2B


Related symptoms:

  • Abnormality of the dentition
  • Osteoporosis
  • Delayed puberty
  • Amenorrhea
  • Primary amenorrhea


SOURCES: MESH OMIM MENDELIAN

More info about PREMATURE OVARIAN FAILURE 2B; POF2B

Low match GROWTH HORMONE INSENSITIVITY, PARTIAL; GHIP


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GROWTH HORMONE INSENSITIVITY, PARTIAL; GHIP

Low match SHORT STATURE DUE TO PRIMARY ACID-LABILE SUBUNIT DEFICIENCY


Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity.

Related symptoms:

  • Growth delay
  • Micrognathia
  • Delayed skeletal maturation
  • Delayed puberty
  • Insulin resistance


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE DUE TO PRIMARY ACID-LABILE SUBUNIT DEFICIENCY

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60; MRT60


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60; MRT60

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

Symptoms // Phenotype % cases
Delayed skeletal maturation Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Decreased serum insulin-like growth factor 1 Uncommon - Between 30% and 50% cases
Decreased body weight Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypoglycemia

Rare Symptoms - Less than 30% cases


Ketosis Premature ovarian insufficiency Vomiting Abdominal pain Amenorrhea Small pituitary gland Primary amenorrhea Failure to thrive Insulin resistance Tall stature Osteoporosis Abnormality of the dentition Central hypothyroidism Macroorchidism Overweight Micrognathia Pain Truncal obesity Mild postnatal growth retardation Insulin insensitivity Hypoplasia of the corpus callosum Reduced insulin like growth factor binding protein acid labile subunit level Intellectual disability Seizures Global developmental delay Microcephaly Intellectual disability, mild Small for gestational age Delayed myelination Pachygyria Hypothyroidism Hypogonadism Delayed menarche Hypoplasia of the uterus Hypertension Pneumonia Jaundice Stroke Heart murmur Midface retrusion Postnatal growth retardation Growth hormone deficiency Hirsutism Hypergonadotropic hypogonadism Secondary amenorrhea Unilateral cryptorchidism Abnormality of the uterus Gonadal hypoplasia Abnormality of body weight Cryptorchidism Anemia Abnormality of the kidney Infertility Renal agenesis Azoospermia Bilateral cryptorchidism Mild microcephaly



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