High palate, and Delayed speech and language development

Diseases related with High palate and Delayed speech and language development

In the following list you will find some of the most common rare diseases related to High palate and Delayed speech and language development that can help you solving undiagnosed cases.

Top matches:

Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with acetylcholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Ptosis
  • High palate
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS3C

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 90; MRX90

L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy.

L-ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY Is also known as arginine:glycine amidinotransferase deficiency|gatm deficiency|agat deficiency|creatine deficiency syndrome due to agat deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about L-ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY

Other less relevant matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 58; MRD58

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 49; MRD49

MENTAL RETARDATION, X-LINKED 30; MRX30 Is also known as mental retardation, x-linked 47|mrx47

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • High palate


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 30; MRX30

INTELLECTUAL DISABILITY-EXPRESSIVE APHASIA-FACIAL DYSMORPHISM SYNDROME Is also known as intellectual disability-loss of expressive language-facial dysmorphism syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Ptosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-EXPRESSIVE APHASIA-FACIAL DYSMORPHISM SYNDROME

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 91; MRX91

NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS; NEDHND Is also known as myopathy, congenital, with neuropathy and deafness|cmnd

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS; NEDHND

Top 5 symptoms//phenotypes associated to High palate and Delayed speech and language development

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Absent speech Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with High palate and Delayed speech and language development. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Motor delay Intellectual disability, severe Hypertelorism Macrotia Short nose Upslanted palpebral fissure Aggressive behavior Muscle weakness

Rare Symptoms - Less than 30% cases

Small hand Wide mouth Poor speech Dental crowding Long philtrum Severe muscular hypotonia Pointed chin Narrow palate Hyperactivity Epicanthus Microcephaly Intellectual disability, mild Thin upper lip vermilion Obesity Clinodactyly Abnormal facial shape Narrow palpebral fissure Ptosis Facial palsy Autism Strabismus Feeding difficulties Behavioral abnormality Myopathy Schizophrenia Severe global developmental delay Muscular hypotonia Short stature Cafe-au-lait spot Long face Synophrys Dolichocephaly Long ear Low-set ears EEG abnormality Brachycephaly Short foot Agitation Restlessness Short attention span Downslanted palpebral fissures Attention deficit hyperactivity disorder Language impairment Low posterior hairline Distal muscle weakness Demyelinating peripheral neuropathy Motor axonal neuropathy Ankle contracture Generalized amyotrophy Myopathic facies Cerebral visual impairment Generalized muscle weakness Distal amyotrophy Peripheral axonal neuropathy Neonatal hypotonia Drooling Areflexia Skeletal muscle atrophy Peripheral neuropathy Visual impairment Flexion contracture Scoliosis Hearing impairment Macrodontia Short 5th finger Cubitus valgus Delayed gross motor development Anxiety Open mouth Neurological speech impairment Pes cavus Tremor Delayed ability to walk Incoordination Plagiocephaly Thick vermilion border Proximal muscle weakness Facial asymmetry Autistic behavior Mandibular prognathia Aciduria Wide nasal bridge Infantile muscular hypotonia Failure to thrive in infancy Abnormality of creatine metabolism Organic aciduria Progressive proximal muscle weakness Long fingers Decreased muscle mass Elevated serum creatine phosphokinase Blepharophimosis Psychosis Depressed nasal bridge Flat face Gowers sign Fatigue Anteverted nares Sandal gap Dysphagia Downturned corners of mouth Respiratory insufficiency Limb muscle weakness Narrow chest Thick eyebrow Kinetic tremor Hand tremor Self-mutilation Enuresis Failure to thrive Waddling gait Cognitive impairment High, narrow palate Inability to walk Demyelinating motor neuropathy


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