Failure to thrive, and Hypothyroidism

Diseases related with Failure to thrive and Hypothyroidism

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

Top matches:

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

Interstitial lung and liver disease is an autosomal recessive disorder characterized by onset of respiratory insufficiency and progressive liver disease in infancy or early childhood. Pathologic examination of lung lavage is consistent with pulmonary alveolar proteinosis (summary by Hadchouel et al., 2015).

INTERSTITIAL LUNG AND LIVER DISEASE; ILLD Is also known as infantile liver failure syndrome 2, formerly|pulmonary alveolar proteinosis, reunion island|ilfs2, formerly

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Anemia
  • Motor delay
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about INTERSTITIAL LUNG AND LIVER DISEASE; ILLD

Intellectual disability-strabismus syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by moderate to severe intellectual disability and esotropia. Other associated features may include growth failure (underweight, failure to thrive, short stature), microcephaly, tone abnormalities (hypotonia, spasticity), epilepsy, behavioral problems (hyperactivity, aggressiveness), and/or abnormal brain morphology, including arachnoid cyst, cerebral atrophy, mild ventriculomegaly, abnormal CNS myelination or corpus callosum agenesis.

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-STRABISMUS SYNDROME

Other less relevant matches:

Congenital nephrotic syndrome, Finnish type is characterised by protein loss beginning during foetal life.

CONGENITAL NEPHROTIC SYNDROME, FINNISH TYPE Is also known as cnf|finnish congenital nephrosis|nephrotic syndrome, congenital

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Edema
  • Renal insufficiency
  • Recurrent infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL NEPHROTIC SYNDROME, FINNISH TYPE

Familial glucocorticoid deficiency is a rare autosomal recessive disorder characterized by an inability of the adrenal cortex to produce cortisol in response to stimulation by adrenocorticotropic hormone (ACTH). Affected individuals typically present within the first few months of life with symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, hypoglycemia, convulsions, and shock. The disease is life-threatening if untreated (summary by Meimaridou et al., 2012).For a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 (OMIM ).

Related symptoms:

  • Seizures
  • Neoplasm
  • Failure to thrive
  • Cryptorchidism
  • Cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY; GCCD4

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

Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin.

OBESITY DUE TO PRO-OPIOMELANOCORTIN DEFICIENCY Is also known as pomc deficiency|proopiomelanocortin deficiency

Related symptoms:

  • Seizures
  • Growth delay
  • Failure to thrive
  • Hepatomegaly
  • Obesity


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about OBESITY DUE TO PRO-OPIOMELANOCORTIN DEFICIENCY

Medium match HAWKINSINURIA

Hawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine.

HAWKINSINURIA Is also known as 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency|4-hppd deficiency|4-hydroxyphenylpyruvic acid dioxygenase deficiency

Related symptoms:

  • Microcephaly
  • Growth delay
  • Failure to thrive
  • Muscular hypotonia
  • Hepatomegaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about HAWKINSINURIA

Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.

IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME Is also known as enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy|ipex|autoimmune enteropathy type 1|iddm-secretory diarrhea syndrome|x-linked autoimmunity-allergic dysregulation syndrome|polyendocrinopathy, immune dysfunction, and diarrhea, x-linked|

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Anemia
  • Intrauterine growth retardation
  • Diarrhea


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME

Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distictive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY

Top 5 symptoms//phenotypes associated to Failure to thrive and Hypothyroidism

Symptoms // Phenotype % cases
Growth delay Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Hypoglycemia Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Failure to thrive and Hypothyroidism. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Acidosis Growth hormone deficiency Anemia Vomiting Adrenal insufficiency

Rare Symptoms - Less than 30% cases

Abnormal facial shape Severe failure to thrive Microcephaly Intellectual disability Type I diabetes mellitus Abnormal lung morphology Abnormal intestine morphology Diabetes mellitus Hepatitis Recurrent infections Autoimmunity Hepatic failure Diarrhea Nephrotic syndrome Cryptorchidism Hypotension Short stature Hyponatremia Global developmental delay Adrenal hypoplasia Cholestasis Delayed puberty Hypoglycemic seizures Adrenocorticotropic hormone deficiency Increased body weight Neonatal hypoglycemia Secretory diarrhea Irritability Central adrenal insufficiency Increased adipose tissue Childhood-onset truncal obesity Abnormal eating behavior Muscular hypotonia Fine hair Sparse hair Metabolic acidosis Tachypnea Renal tubular acidosis Anisocytosis Spherocytosis Hypertyrosinemia Body odor Red hair Pituitary hypothyroidism Gonadotropin deficiency Agenesis of corpus callosum Chronic lung disease Abnormality of the hypothalamus-pituitary axis Prominent occiput Ectopic posterior pituitary Septo-optic dysplasia Abnormality of the pituitary gland Obesity Delayed skeletal maturation Weight loss Fructose intolerance Hypopigmentation of the skin Relative macrocephaly Hyperbilirubinemia Acanthosis nigricans Hyperinsulinemia Polyphagia Short chin Decreased circulating cortisol level Chronic metabolic acidosis Chronic diarrhea 4-Hydroxyphenylpyruvic aciduria Thyroiditis Abnormality of the coagulation cascade Malnutrition Respiratory failure Abnormality of the thyroid gland Autoimmune hemolytic anemia Posteriorly rotated ears Clinodactyly Splenomegaly Erythroderma Ketoacidosis Villous atrophy Immune dysregulation Ileus Frontal bossing Macrocephaly Pancreatic hypoplasia Low-set ears Hyperglycemia Nephritis Intractable diarrhea Malabsorption Abnormality of tyrosine metabolism 4-Hydroxyphenylacetic aciduria Intrauterine growth retardation Immunodeficiency Thrombocytopenia Arthritis Asthma Lymphadenopathy Eosinophilia Hemolytic anemia Sepsis Eczema Dolichocephaly Inflammatory abnormality of the skin Diabetes insipidus Camptodactyly Proptosis Cardiac arrest Precocious puberty Primary amenorrhea Behavioral abnormality Interstitial pulmonary abnormality Alveolar proteinosis Hypertelorism Strabismus Cognitive impairment Depressed nasal bridge Epicanthus Ventriculomegaly Prominent forehead Aminoaciduria Upslanted palpebral fissure Hyperactivity Aggressive behavior Telecanthus Delayed myelination Esotropia Neurodevelopmental delay Edema Clubbing Decreased liver function Gastroesophageal reflux Enlarged pituitary gland Severe short stature Hypogonadism Blue sclerae Hypopituitarism Panhypopituitarism Prolactin deficiency Large sella turcica Small pituitary gland Craniopharyngioma Hepatic steatosis Motor delay Respiratory insufficiency Respiratory distress Dyspnea Elevated hepatic transaminase Abnormality of the liver Cough Lactic acidosis Cirrhosis Renal insufficiency Proteinuria Hypoplasia of penis Shock Heavy proteinuria Neoplasm Cardiomyopathy Hypertrophic cardiomyopathy Coma Dehydration Hyperpigmentation of the skin Azoospermia Apathy Elevated amniotic fluid alpha-fetoprotein Hyperkalemia Congenital hypothyroidism Primary adrenal insufficiency Renal salt wasting Increased circulating renin level Hypoglycemic coma Hypernatriuria Micropenis Jaundice Podocyte foot process effacement Mesangial hypercellularity Abnormality of the kidney Hypoalbuminemia Respiratory tract infection Scarring Small for gestational age Confusion Stage 5 chronic kidney disease Abdominal distention Hyperlipidemia Hypercholesterolemia Pyloric stenosis Congenital nephrotic syndrome Glomerulosclerosis Neonatal respiratory distress Focal segmental glomerulosclerosis Tubular atrophy Hypoproteinemia Abnormality of the renal tubule Diffuse mesangial sclerosis Delayed eruption of permanent teeth Steroid-resistant nephrotic syndrome Interstitial pneumonitis


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