Global developmental delay, and Growth hormone deficiency

Diseases related with Global developmental delay and Growth hormone deficiency

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

Top matches:

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Cleft palate
  • Agenesis of corpus callosum
  • Proptosis


SOURCES: OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 11; HPE11

X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY Is also known as mrgh

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY

HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI, see this term) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution.

HYPERINSULINISM DUE TO UCP2 DEFICIENCY Is also known as hyperinsulinemic hypoglycemia due to ucp2 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Cognitive impairment
  • Hepatomegaly
  • Vomiting


SOURCES: ORPHANET MENDELIAN

More info about HYPERINSULINISM DUE TO UCP2 DEFICIENCY

Other less relevant matches:

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

Autosomal dominant hyperinsulinism due to SUR1 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism, see this term).

AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO SUR1 DEFICIENCY Is also known as autosomal dominant hyperinsulinemic hypoglycemia due to sur1 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Cognitive impairment
  • Hepatomegaly


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO SUR1 DEFICIENCY

Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism, see this term).

AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO KIR6.2 DEFICIENCY Is also known as dominant katp hyperinsulinism due to kir6.2 deficiency|autosomal dominant hyperinsulinemic hypoglycemia due to kir6.2 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Cognitive impairment
  • Hepatomegaly


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO KIR6.2 DEFICIENCY

Combined oxidative phosphorylation defect type 25 is a rare mitochondrial oxidative phosphorylation disorder with decreased respiratory complex I and IV enzyme activities, characterized by hypotonia, global developmental delay, neonatal onset of progressive pectus carinatum without other skeletal abnormalities, poor growth, sensorineural hearing loss, dysmorphic features and brain abnormalities such as cerebral atrophy, quadriventricular dilatation and thin corpus callosum posteriorly.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 25 Is also known as coxpd25

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 25

Joubert syndrome-26 is an autosomal recessive ciliopathy characterized by global developmental delay associated with cerebellar hypoplasia and variable additional abnormalities, including hypotonia and possibly pituitary abnormalities (summary by Sanders et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 26; JBTS26

Common variable immunodeficiency-10 is an autosomal dominant primary immunodeficiency characterized by childhood-onset of recurrent infections, hypogammaglobulinemia, and decreased numbers of memory and marginal zone B cells. Some patients may develop autoimmune features and have circulating autoantibodies. An unusual feature is central adrenal insufficiency (summary by Chen et al., 2013).For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (OMIM ).

IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10 Is also known as deficit in anterior pituitary function and variable immunodeficiency|david|immunodeficiency, common variable, with central adrenal insufficiency

Related symptoms:

  • Global developmental delay
  • Spasticity
  • Gait disturbance
  • Dysphagia
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 6; NS6

Top 5 symptoms//phenotypes associated to Global developmental delay and Growth hormone deficiency

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Hyperinsulinemia Uncommon - Between 30% and 50% cases
Cognitive impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and Growth hormone deficiency. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hepatomegaly Vomiting Diarrhea Hyperhidrosis Pallor Lethargy Tachycardia Coma Progressive neurologic deterioration Growth delay Vitamin B1 deficiency Agitation Panhypopituitarism Microcephaly Drowsiness Neonatal hypoglycemia Hyperinsulinemic hypoglycemia Hypoketotic hypoglycemia Depressed nasal bridge Secondary growth hormone deficiency Pancreatic islet-cell hyperplasia Abnormality of fatty-acid metabolism Large for gestational age Generalized hypotonia Cleft lip Cleft palate Wide nasal bridge

Rare Symptoms - Less than 30% cases

Micropenis Synophrys Abnormal brain FDG positron emission tomography Hypopituitarism Cryptorchidism Bilateral ptosis Anteverted nares Hypotelorism Low-set ears Sensorineural hearing impairment Adrenocorticotropic hormone deficiency Hearing impairment Ectopic posterior pituitary Oral cleft Decreased circulating cortisol level Holoprosencephaly Hypothyroidism Adrenal insufficiency Intellectual disability Epicanthus Intellectual disability, mild Long philtrum Recurrent infections Ptosis Central hypothyroidism Inferior vermis hypoplasia Autoimmune thrombocytopenia Spasticity Gait disturbance Dysphagia Psoriasiform dermatitis Sinusitis Purpura Meningitis Alopecia Bronchiectasis Inflammatory abnormality of the skin Decreased antibody level in blood Asthma Nail dystrophy Hypoglycemia Immunodeficiency Recurrent respiratory infections Myelomeningocele Trachyonychia Vitiligo Hypertrophic cardiomyopathy Long eyebrows Asymmetry of the thorax Broad neck Curly hair Relative macrocephaly Cafe-au-lait spot Webbed neck Pulmonic stenosis Leukemia Broad forehead Sparse hair High forehead Chronic sinusitis Hyperkeratosis Abnormal heart morphology Edema Cardiomyopathy Downslanted palpebral fissures Macrocephaly Myopia Motor delay Delayed speech and language development Central adrenal insufficiency Alopecia areata Alopecia totalis Molar tooth sign on MRI Increased body weight Recurrent upper respiratory tract infections Pain Depressed nasal ridge Postaxial polydactyly Cleft upper lip Polydactyly Abdominal pain Hypogonadism Delayed skeletal maturation Midface retrusion Agenesis of corpus callosum Proptosis Diabetes insipidus Thick eyebrow Polysplenia High palate Severe short stature Coarse facial features Intellectual disability, moderate Delayed puberty Aspiration Spina bifida Spina bifida occulta Bilateral cryptorchidism High pitched voice Cone/cone-rod dystrophy Gastroesophageal reflux Tachypnea Oculomotor apraxia Apraxia Cerebellar hypoplasia Frontal bossing Nystagmus Ataxia Intraventricular hemorrhage Preeclampsia Pectus carinatum Prominent forehead Poor appetite Constipation Cerebral atrophy Dilatation Short nose Cerebellar atrophy Feeding difficulties Failure to thrive Bilateral postaxial polydactyly Anterior pituitary hypoplasia Microphallus Juvenile myelomonocytic leukemia


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