Microcephaly, and Constipation

Diseases related with Microcephaly and Constipation

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


Top matches:

Medium match HYPERKALEMIC PERIODIC PARALYSIS; HYPP


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

Medium match SEVERE NEONATAL-ONSET ENCEPHALOPATHY WITH MICROCEPHALY


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

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 54; MRD54


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 54; MRD54

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Other less relevant matches:

Medium match NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH; NEDSG


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH; NEDSG

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47; EIEE47


Early infantile epileptic encephalopathy-47 is a neurologic disorder characterized by onset of intractable seizures in the first days or weeks of life. EEG shows background slowing and multifocal epileptic spikes, and may show hypsarrhythmia. Most patients have developmental regression after seizure onset and show persistent intellectual disability and neurologic impairment, although the severity is variable. Treatment with phenytoin, a voltage-gated sodium channel blocker, may be beneficial (summary by Guella et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47; EIEE47

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46; EIEE46


Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46; EIEE46

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 43; MRD43


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 43; MRD43

Medium match DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6; DKCB6


Autosomal recessive dyskeratosis congenita-6 is a bone marrow failure disorder associated with abnormal skin pigmentation, nail dystrophy, oral leukoplakia, microcephaly, and developmental delay (summary by Tummala et al., 2015).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6; DKCB6

Medium match COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32; COXPD32


Combined oxidative phosphorylation deficiency-32 is an autosomal recessive neurodegenerative disorder characterized by onset of delayed psychomotor development and developmental regression in infancy. Affected individuals have multiple variable symptoms, including poor or absent speech, inability to walk, and abnormal movements. Brain imaging shows T2-weighted abnormalities in the basal ganglia and brainstem consistent with Leigh syndrome (OMIM ). Patient cells showed decreased activities of mitochondrial respiratory chain complexes, I, III, and IV, as well as impaired mitochondrial translation (summary by Lake et al., 2017).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32; COXPD32

Medium match RETT SYNDROME, CONGENITAL VARIANT


The congenital variant of Rett syndrome is a severe neurodevelopmental disorder with features of classic Rett syndrome (RTT ), but earlier onset in the first months of life. Classic Rett syndrome shows later onset and is caused by mutation in the MECP2 gene (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about RETT SYNDROME, CONGENITAL VARIANT

Top 5 symptoms//phenotypes associated to Microcephaly and Constipation

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Absent speech Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Feeding difficulties

Uncommon Symptoms - Between 30% and 50% cases


Muscular hypotonia of the trunk Spasticity Gastroesophageal reflux Postnatal microcephaly Failure to thrive EEG abnormality Growth delay Ataxia Encephalopathy Hyperreflexia Visual impairment Hypoplasia of the corpus callosum Developmental regression Inability to walk Dystonia Autism Delayed speech and language development Abnormal facial shape

Rare Symptoms - Less than 30% cases


Irritability Cerebral visual impairment Short stature Cerebellar atrophy Poor eye contact Status epilepticus Progressive microcephaly Hypsarrhythmia Hypertonia Pes planus Scoliosis Abnormality of eye movement Epileptic encephalopathy Flexion contracture Delayed myelination Poor speech Intellectual disability, severe Muscle weakness Strabismus Nail dystrophy Carious teeth Abnormality of skin pigmentation Sparse hair Cerebellar hypoplasia Inappropriate laughter Neonatal hypotonia Alopecia Midface retrusion Intellectual disability, profound Intrauterine growth retardation Low-set ears Impulsivity Short chin Hip dysplasia Tapered finger Wide nose Prominent nasal bridge Attention deficit hyperactivity disorder Autistic behavior Anxiety Thin upper lip vermilion Pancytopenia Oral leukoplakia Fine hair Drooling Genu valgum Dyskinesia Kyphosis Talipes equinovarus Chorea Motor delay Increased CSF lactate Apraxia Pachygyria Exotropia Aspiration Choreoathetosis Increased serum lactate Gliosis Lethargy Impaired social interactions Breathing dysregulation Bone marrow hypocellularity CNS hypomyelination Postnatal growth retardation Nystagmus Ptosis Optic atrophy Tremor Coarse facial features Bruxism Cortical gyral simplification Athetosis High forehead Visual loss Kyphoscoliosis Umbilical hernia Abnormal autonomic nervous system physiology Narrow mouth Lid lag on downgaze Abnormal muscle tone Central hypoventilation Hypoventilation Intellectual disability, progressive Polymicrogyria Feeding difficulties in infancy Apnea Rigidity Respiratory failure Myoclonus Vomiting Respiratory insufficiency Episodic flaccid weakness Abnormality of the eye Periodic hyperkalemic paralysis Periodic paralysis Ketosis Loss of consciousness Skeletal muscle hypertrophy Myotonia Muscle stiffness Generalized muscle weakness Paralysis Clinodactyly Myopathy Skeletal muscle atrophy Pain Congenital encephalopathy Ectodermal dysplasia Hyperactivity Multifocal epileptiform discharges Hernia Cerebral atrophy Behavioral abnormality Anteverted nares Wide nasal bridge Hypertelorism Tented upper lip vermilion Widely spaced teeth Long eyelashes Full cheeks Thick eyebrow Deeply set eye Dysphagia Chronic constipation Abnormality of the cerebral white matter Arnold-Chiari type I malformation Hypohidrosis Limb ataxia Optic disc pallor Focal-onset seizure Severe global developmental delay Ventriculomegaly Gait disturbance Cognitive impairment Poor head control Oculomotor apraxia Clonus Intention tremor Tongue thrusting



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