Global developmental delay, and Hypothyroidism

Diseases related with Global developmental delay and Hypothyroidism

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

Top matches:

Presumed loss-of-function mutation(s) in the IYD gene, resulting in reduced activity of the enzyme iodotyrosine deiodinase.

THYROID DYSHORMONOGENESIS 4; TDH4 Is also known as hypothyroidism, congenital, due to dyshormonogenesis, 4|thyroid hormonogenesis, genetic defect in, 4|iodotyrosine dehalogenase deficiency|deiodinase deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Hypothyroidism
  • Goiter


SOURCES: OMIM MESH MENDELIAN

More info about THYROID DYSHORMONOGENESIS 4; TDH4

Medium match ATHYREOSIS

Athyreosis is a form of thyroid dysgenesis (see this term) characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about ATHYREOSIS

Medium match THYROID HYPOPLASIA

Thyroid hypoplasia is a form of thyroid dysgenesis (see this term) characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Muscular hypotonia
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about THYROID HYPOPLASIA

Other less relevant matches:

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

Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism (see this term) characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth.

RESISTANCE TO THYROTROPIN-RELEASING HORMONE SYNDROME Is also known as trh resistance syndrome|central hypothyroidism due to trh receptor deficiency

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Muscular hypotonia
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about RESISTANCE TO THYROTROPIN-RELEASING HORMONE SYNDROME

Medium match THYROID ECTOPIA

Thyroid ectopia is a form of thyroid dysgenesis (see this term) characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about THYROID ECTOPIA

Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROCEPHALIC PRIMORDIAL DWARFISM, DAUBER TYPE

Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms).

BRAIN-LUNG-THYROID SYNDROME Is also known as choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome|brain-lung-thyroid syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Muscular hypotonia
  • Motor delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about BRAIN-LUNG-THYROID SYNDROME

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

Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Muscular hypotonia
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about HYPOTHYROIDISM DUE TO DEFICIENT TRANSCRIPTION FACTORS INVOLVED IN PITUITARY DEVELOPMENT OR FUNCTION

Top 5 symptoms//phenotypes associated to Global developmental delay and Hypothyroidism

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Muscular hypotonia Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Coarse facial features Common - Between 50% and 80% cases
Abnormality of the face Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Constipation Intellectual disability Large fontanelles Jaundice Intellectual disability, severe Abdominal distention Macroglossia Umbilical hernia Sleep disturbance Fatigue Feeding difficulties

Rare Symptoms - Less than 30% cases

Hypersomnia Septo-optic dysplasia Delayed puberty Generalized hypotonia Primary amenorrhea Severe short stature Muscle weakness Central hypothyroidism Congenital hypothyroidism Seizures Abnormality of the thyroid gland Abnormality of the hypothalamus-pituitary axis Choreoathetosis Abnormal lung morphology Abnormality of movement Chorea Asthma Dystonia Abnormal cardiac septum morphology Respiratory tract infection Apnea Difficulty walking Gait ataxia Respiratory failure Recurrent respiratory infections Pneumonia Atrial septal defect Respiratory distress Recurrent pneumonia Thyroid dysgenesis Infantile muscular hypotonia Anemia Abnormality of the pituitary gland Ectopic posterior pituitary Adrenal hypoplasia Diabetes insipidus Hypoplasia of penis Hypotension Hypoglycemia Micropenis Cryptorchidism Hyperkinesis Failure to thrive Ventricular septal defect Compensated hypothyroidism Increased thyroid-stimulating hormone level Parkinsonism with favorable response to dopaminergic medication Interstitial pulmonary abnormality Athetosis Neonatal respiratory distress Respiratory insufficiency Prominent nose Skeletal muscle atrophy Intellectual disability, moderate Myelomeningocele Hypopituitarism Adrenal insufficiency Spina bifida occulta Spina bifida Aspiration Growth hormone deficiency Synophrys Long philtrum Prolonged neonatal jaundice Intellectual disability, mild Wide nasal bridge Epicanthus High palate Hypertelorism Thyroid hypoplasia Thyroid agenesis Goiter Panhypopituitarism Large posterior fontanelle Fever Amenorrhea Dysarthria Motor delay Ataxia Lumbar scoliosis Abnormality of the carpal bones Madelung deformity Hypoplasia of the uterus Hypotelorism Hip dysplasia Ectopic thyroid Severe global developmental delay Microtia Postnatal growth retardation Delayed skeletal maturation Clinodactyly Obesity Intrauterine growth retardation Microcephaly Oral cleft


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