Short stature, and Hypogonadism

Diseases related with Short stature and Hypogonadism

In the following list you will find some of the most common rare diseases related to Short stature and Hypogonadism that can help you solving undiagnosed cases.


Top matches:

Medium match BARDET-BIEDL SYNDROME 11; BBS11


BBS11 was diagnosed in members of a single Israeli Bedouin family based on the presence of at least 3 of the following features: obesity, polydactyly, renal anomalies, retinopathy, hypogonadism, and learning disabilities (Chiang et al., 2006).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Obesity
  • Hypogonadism
  • Polydactyly
  • Abnormality of the kidney
  • Retinopathy


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 11; BBS11

Low match 46,XX OVARIAN DYSGENESIS-SHORT STATURE SYNDROME


Related symptoms:

  • Short stature
  • Delayed skeletal maturation
  • Hypogonadism
  • Infertility
  • Amenorrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about 46,XX OVARIAN DYSGENESIS-SHORT STATURE SYNDROME

Low match BARDET-BIEDL SYNDROME 7; BBS7


BBS7 is an autosomal recessive disorder characterized by retinitis pigmentosa, postaxial polydactyly, mental retardation, obesity, renal anomalies, and hypogenitalism (Harville et al., 2010). Zaghloul and Katsanis (2009) estimated the contribution of BBS7 gene mutations to the total BBS mutational load to be 1.50%.For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Obesity
  • Rod-cone dystrophy
  • Hypogonadism
  • Polydactyly


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 7; BBS7

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Other less relevant matches:

Low match BARDET-BIEDL SYNDROME 20; BBS20


BBS20 is an autosomal recessive ciliopathy described in a single patient and characterized by retinitis pigmentosa, obesity, polydactyly, hypogonadism, and intellectual disability (Lindstrand et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Obesity
  • Rod-cone dystrophy
  • Hypogonadism


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 20; BBS20

Low match BJÖRNSTAD SYNDROME


Björnstad syndrome is characterized by congenital sensorineural hearing loss and pili torti.

BJÖRNSTAD SYNDROME Is also known as deafness-pili torti-hypogonadism syndrome|pili torti and nerve deafness|ptd

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Intellectual disability, severe


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about BJÖRNSTAD SYNDROME

Low match AROMATASE EXCESS SYNDROME


Aromatase excess syndrome is a rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all.

AROMATASE EXCESS SYNDROME Is also known as aexs|familial hyperestrogenism|hereditary prepubertal gynecomastia|aromatase activity, increased

Related symptoms:

  • Short stature
  • Neoplasm
  • Hypogonadism
  • Falls
  • Gynecomastia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AROMATASE EXCESS SYNDROME

Low match PITUITARY HORMONE DEFICIENCY, COMBINED, 2; CPHD2


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

Low match POLYENDOCRINE-POLYNEUROPATHY SYNDROME


Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about POLYENDOCRINE-POLYNEUROPATHY SYNDROME

Low match PERRAULT SYNDROME 3; PRLTS3


Perrault syndrome (PRLTS) is an autosomal recessive disorder characterized by sensorineural hearing loss (SNHL) and premature ovarian failure (POF) secondary to ovarian dysgenesis. Affected males have SNHL but show normal pubertal development. A spectrum of additional clinical features, including cerebellar ataxia, learning disability, and peripheral neuropathy, have been described in some affected individuals (summary by Jenkinson et al., 2013).For a discussion of genetic heterogeneity of Perrault syndrome, see PRLTS1 (OMIM ).

PERRAULT SYNDROME 3; PRLTS3 Is also known as dfnb81, formerly|deafness, autosomal recessive 81, formerly

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about PERRAULT SYNDROME 3; PRLTS3

Low match PRIMARY PIGMENTED NODULAR ADRENOCORTICAL DISEASE


Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome (see this term) and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter).

PRIMARY PIGMENTED NODULAR ADRENOCORTICAL DISEASE Is also known as ppnad|primary pigmented nodular adrenal dysplasia|cushing syndrome, adrenal, due to ppnad3

Related symptoms:

  • Short stature
  • Muscle weakness
  • Hypertension
  • Skeletal muscle atrophy
  • Fatigue


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY PIGMENTED NODULAR ADRENOCORTICAL DISEASE

Top 5 symptoms//phenotypes associated to Short stature and Hypogonadism

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Obesity Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Polydactyly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Short stature and Hypogonadism. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Hypoglycemia Amenorrhea Primary amenorrhea Seizures Rod-cone dystrophy Diabetes mellitus Abnormality of the kidney Microcephaly Sensorineural hearing impairment Ataxia Hypothyroidism Dystonia Central hypothyroidism Glucose intolerance Progressive hearing impairment Postnatal growth retardation Type I diabetes mellitus Polyneuropathy Abnormal pyramidal sign Cerebellar hypoplasia Intellectual disability, moderate Spasticity Dysarthria Pes cavus Global developmental delay Premature ovarian insufficiency Peripheral neuropathy Fatigue Slender build Adrenal hyperplasia Increased circulating cortisol level Striae distensae Increased susceptibility to fractures Thin skin Osteoporosis Myopathy Skeletal muscle atrophy Spastic paraplegia Hypertension Muscle weakness Secondary amenorrhea Hypoplasia of the uterus Congenital sensorineural hearing impairment Hypergonadotropic hypogonadism Lower limb spasticity Paraplegia Delayed puberty Motor delay Neonatal hypoglycemia Craniopharyngioma Coarse hair Falls Neoplasm Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes Dry hair Pili torti Anhidrosis Brittle hair Hypotrichosis Accelerated skeletal maturation Alopecia Intellectual disability, severe External genital hypoplasia Postaxial polydactyly Decreased body weight Infertility Delayed skeletal maturation Retinopathy Gynecomastia Precocious puberty Enlarged pituitary gland Adrenal insufficiency Small pituitary gland Large sella turcica Prolactin deficiency Hypoglycemic seizures Adrenocorticotropic hormone deficiency Panhypopituitarism Hypopituitarism Increased body weight Acne Blue sclerae Growth hormone deficiency Severe short stature Failure to thrive Breast hypertrophy Isosexual precocious puberty Menstrual irregularities Decreased serum testosterone level Pigmented micronodular adrenocortical disease



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