Generalized hypotonia, and Constipation

Diseases related with Generalized hypotonia and Constipation

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

Top matches:

A very rare disorder caused by mutation in the SCN11A gene. Affected individuals are unable to experience pain since birth resulting in self-inflicted injuries.

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 7 Is also known as hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction|cip with hyperhidrosis and gastrointestinal dysfunction|hsan with hyperhidrosis and gastrointestinal dysfunction|congenital insensitivity to pain with hyperhid

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Pain
  • Motor delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 7

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

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

Other less relevant matches:

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

Although the phenotypic spectrum and severity of FG syndrome is wide, the cardinal features include congenital hypotonia, delayed speech development, relative macrocephaly, dysmorphic facies, and anal anomalies or severe constipation (Unger et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about FG SYNDROME 2; FGS2

High 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

Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria (see this term) characterized by neuro-visceral attacks without cutaneous manifestations.

PORPHYRIA DUE TO ALA DEHYDRATASE DEFICIENCY Is also known as porphyria due to alad deficiency|doss porphyria|delta-aminolevulinate dehydratase deficiency|alad porphyria|porphyria, alad|porphyria of doss|alad deficiency|porphyria due to delta-aminolevulinate dehydratase deficiency|porphobilinogen synthase deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PORPHYRIA DUE TO ALA DEHYDRATASE 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

Severe neonatal-onset encephalopathy with microcephaly is a rare monogenic disease with epilepsy characterized by neonatal-onset encephalopathy, microcephaly, severe developmental delay or absent development, breathing abnormalities (including central hypoventilation and/or respiratory insufficiency), intractable seizures, abnormal muscle tone and involuntary movements. Early death is usual.

SEVERE NEONATAL-ONSET ENCEPHALOPATHY WITH MICROCEPHALY Is also known as severe congenital encephalopathy due to mecp2 mutation

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SEVERE NEONATAL-ONSET ENCEPHALOPATHY WITH MICROCEPHALY

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 54; MRD54

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Constipation

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Feeding difficulties Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Generalized hypotonia and Constipation. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Pain Abnormal facial shape Chronic constipation Vomiting Muscular hypotonia Diarrhea

Rare Symptoms - Less than 30% cases

Gastroesophageal reflux EEG abnormality Postnatal microcephaly Muscular hypotonia of the trunk Delayed speech and language development Peripheral neuropathy Neonatal hypotonia Muscle weakness Relative macrocephaly Abdominal pain Growth delay Microcephaly Prominent forehead Macrocephaly Respiratory insufficiency Short stature Hypoplasia of the corpus callosum Hypothyroidism Elevated urinary delta-aminolevulinic acid Coarse facial features Abdominal colic Umbilical hernia Wrist drop Joint dislocation Polyneuropathy Respiratory paralysis Motor axonal neuropathy Hyponatremia Hemiparesis Psychosis Sensory neuropathy Hemolytic anemia Tachycardia Paresthesia Behavioral abnormality Hypertension Anemia Episodic vomiting Ketosis Sleep disturbance Large posterior fontanelle Macroglossia Intellectual disability, progressive Inability to walk Abnormality of eye movement Abnormality of the eye Absent speech Cerebellar atrophy Visual impairment Strabismus Congenital encephalopathy Abnormal muscle tone Central hypoventilation Hypoventilation Poor eye contact Progressive microcephaly Abnormality of the face Polymicrogyria Feeding difficulties in infancy Apnea Rigidity Respiratory failure Myoclonus Encephalopathy Intellectual disability, severe Hyperreflexia Spasticity Hyperammonemia Prolonged neonatal jaundice Large fontanelles Poor appetite Hypertrophic cardiomyopathy Recurrent urinary tract infections Muscle stiffness Handgrip myotonia Periodic hyperkalemic paralysis Percussion myotonia Inspiratory stridor Periodic paralysis Hand muscle weakness Hyperkalemia Loss of consciousness Skeletal muscle hypertrophy Stridor Myotonia Laryngomalacia Progressive muscle weakness Neonatal inspiratory stridor Generalized muscle weakness Paralysis Myalgia Elevated serum creatine phosphokinase Broad thumb Joint hypermobility Aggressive behavior Dystonia Hyperhidrosis Pruritus Pain insensitivity Abnormal autonomic nervous system physiology Lid lag on downgaze Paradoxical myotonia Heterotopia Anteriorly placed anus Pachygyria Febrile seizures Metabolic acidosis Lactic acidosis Axonal loss Hypoglycemia Acidosis Cardiomyopathy Motor delay Underdeveloped superior crus of antihelix Frontal upsweep of hair Large forehead Protruding ear Intellectual disability, mild Abnormality of the pinna Hyperactivity Abnormal heart morphology Frontal bossing Hypertelorism Hydroureter Vesicoureteral reflux Iris coloboma Coloboma Scarring Hydronephrosis Polyhydramnios Patent ductus arteriosus Ectodermal dysplasia


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