Global developmental delay, and Constipation

Diseases related with Global developmental delay and Constipation

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 99; MRX99

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

The 2 dominantly inherited, clinically similar types of episodic flaccid generalized weakness, HOKPP and HYPP, are distinguished by the changes in serum potassium levels during paralytic attacks. An important clinical difference between the 2 entities is represented by the triggers of attacks of weakness, e.g., HYPP can be provoked by oral potassium administration, whereas this is a remedy for HOKPP. Concurrence of myotonia is found in HYPP but usually not in HOKPP patients (Jurkat-Rott et al., 2000).Jurkatt-Rott and Lehmann-Horn (2007) provided a review of the clinical features, pathogenesis, and therapeutic options for HYPP.

HYPERKALEMIC PERIODIC PARALYSIS; HYPP Is also known as adynamia episodica hereditaria with or without myotonia|gamstorp disease

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Muscle weakness
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about HYPERKALEMIC PERIODIC PARALYSIS; HYPP

Other less relevant matches:

PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC Is also known as paralysis periodica paramyotonica

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Abnormal facial shape
  • Pain


SOURCES: OMIM MENDELIAN

More info about PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC

Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 litres in children.

NEPHROGENIC DIABETES INSIPIDUS Is also known as ndi|diabetes insipidus, nephrogenic, type i

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEPHROGENIC DIABETES INSIPIDUS

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypoplasia of the corpus callosum
  • Intellectual disability, mild


SOURCES: OMIM MENDELIAN

More info about VESICOURETERAL REFLUX 3; VUR3

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

Medium match MALONIC ACIDURIA

Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).

MALONIC ACIDURIA Is also known as malonyl-coa decarboxylase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MALONIC ACIDURIA

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

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

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Feeding difficulties Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Abnormality of the face Macroglossia Coarse facial features Hypothyroidism Large fontanelles Muscle weakness Abdominal distention Intellectual disability, severe Intellectual disability Pain Abnormal facial shape

Rare Symptoms - Less than 30% cases

Jaundice Periodic hyperkalemic paralysis Periodic paralysis Loss of consciousness Lid lag on downgaze Seizures Chronic constipation Myotonia Failure to thrive Vomiting Polyhydramnios Hydronephrosis Hydroureter Skeletal muscle hypertrophy Ketosis Muscle stiffness Fatigue Paralysis Generalized muscle weakness Hypersomnia Umbilical hernia Sleep disturbance Coloboma Prolonged neonatal jaundice Large posterior fontanelle Scarring Patent ductus arteriosus Muscular hypotonia of the trunk Intellectual disability, mild Hypoplasia of the corpus callosum Hypertonic dehydration Hypernatremic dehydration Functional abnormality of the bladder Abnormality of the thyroid gland Unexplained fevers Hypernatremia Episodic vomiting Vesicoureteral reflux Iris coloboma Metabolic acidosis Pachygyria Hyposthenuria Heterotopia Recurrent urinary tract infections Febrile seizures Hyperammonemia Lactic acidosis Poor appetite Hypertrophic cardiomyopathy Hypoglycemia Acidosis Abdominal pain Diarrhea Cardiomyopathy Thyroid hypoplasia Megacystis Fever Nocturia Skeletal muscle atrophy Progressive muscle weakness Myalgia Neonatal hypotonia Elevated serum creatine phosphokinase Episodic flaccid weakness Clinodactyly Myopathy Microcephaly Stridor Thyroid agenesis Relative macrocephaly Broad thumb Joint hypermobility Aggressive behavior Prominent forehead Macrocephaly Laryngomalacia Hyperkalemia Enuresis nocturna Dehydration Nephrogenic diabetes insipidus Hypovolemia Pollakisuria Diabetes insipidus Polyuria Polydipsia Anorexia Nausea and vomiting Hand muscle weakness Irritability Feeding difficulties in infancy Renal insufficiency Paradoxical myotonia Neonatal inspiratory stridor Handgrip myotonia Percussion myotonia Inspiratory stridor Ectopic thyroid


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