High palate, and Long face

Diseases related with High palate and Long face

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • High palate
  • Macrocephaly
  • Frontal bossing


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency is a rare, hereditary ataxia characterized by an early onset symptomatic generalized epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability.

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY Is also known as scar23|spinocerebellar ataxia autosomal recessive type 23

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY

Slow-channel congenital myasthenic syndrome (SCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the acetylcholine receptor channel, specifically from prolonged opening and activity of the channel, which causes prolonged synaptic currents resulting in a depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. Treatment with quinine, quinidine, or fluoxetine may be helpful; cholinesterase inhibitors and amifampridine should be avoided (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Short stature
  • Muscle weakness
  • Ptosis
  • Flexion contracture
  • High palate


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL; CMS2A

Other less relevant matches:

MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE; MSMB Is also known as myopathy, hyaline body, autosomal recessive

Related symptoms:

  • Short stature
  • Scoliosis
  • Muscle weakness
  • High palate
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE; MSMB

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

Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit.

POLYVALVULAR HEART DISEASE SYNDROME Is also known as phd syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Micrognathia
  • Ptosis
  • Low-set ears


SOURCES: ORPHANET MENDELIAN

More info about POLYVALVULAR HEART DISEASE SYNDROME

RAPADILINO syndrome is a syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Abnormal facial shape
  • Cleft palate
  • High palate


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about RAPADILINO SYNDROME

High match FRIED SYNDROME

Fried syndrome is a rare X-linked mental retardation (XLMR) syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies.

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Muscular hypotonia
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about FRIED SYNDROME

High match CAP MYOPATHY

Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis.

CAP MYOPATHY Is also known as cap disease

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • High palate
  • Motor delay
  • Myopathy


SOURCES: MESH ORPHANET MENDELIAN

More info about CAP MYOPATHY

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. Patients with mutations in the CHRNE gene may have compensatory increased expression of the fetal subunit CHRNG (OMIM ) and may respond to treatment with cholinergic agents, pyridostigmine, or amifampridine (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS4C Is also known as cms id, formerly|myasthenia, familial infantile, 1, formerly|myasthenic syndrome, congenital, type id|cms1d, formerly|fim1, formerly

Related symptoms:

  • Generalized hypotonia
  • Strabismus
  • Muscle weakness
  • Muscular hypotonia
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS4C

Top 5 symptoms//phenotypes associated to High palate and Long face

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Ptosis Uncommon - Between 30% and 50% cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with High palate and Long face. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Easy fatigability Short philtrum Scoliosis Generalized hypotonia Motor delay Myopathy Facial palsy

Rare Symptoms - Less than 30% cases

Progressive muscle weakness Poor head control Respiratory failure Brachycephaly Proximal muscle weakness Gowers sign Lower limb muscle weakness Global developmental delay Low-set ears Muscular hypotonia Dolichocephaly Dental crowding Mitral valve prolapse Macrotia Ophthalmoparesis Downslanted palpebral fissures Seizures Intellectual disability, mild Pectus excavatum Mandibular prognathia Narrow face Nasal speech Hearing impairment Abnormal facial shape Sinus tachycardia Type 2 muscle fiber atrophy Autistic behavior Fatiguable weakness of proximal limb muscles Intellectual disability, moderate Weak cry Aggressive behavior Coarse facial features Hydrocephalus Gait disturbance Fatigable weakness Strabismus Stiff interphalangeal joints Limb-girdle muscle weakness Slender nose Abnormal cerebellum morphology Mottled pigmentation Aplasia/Hypoplasia of the patella Patellar hypoplasia Patellar aplasia Absent radius Aplasia/Hypoplasia of the radius Absent thumb Hypoplasia of the radius Narrow palpebral fissure Joint dislocation EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Short chin High, narrow palate Blepharophimosis Poor speech Cerebral calcification Pes valgus Thoracic scoliosis Abnormality of muscle fibers Fatigue Dysphagia Central hypoventilation Arthrogryposis multiplex congenita Limb muscle weakness Lower limb amyotrophy Reduced systolic function Aortic root aneurysm Muscle cramps Dysarthria Dental malocclusion Diarrhea Difficulty running Spastic diplegia Difficulty climbing stairs Generalized amyotrophy Increased variability in muscle fiber diameter Toe walking Decreased fetal movement Respiratory insufficiency due to muscle weakness Decreased muscle mass Reduced tendon reflexes Abnormality of the immune system Frequent falls Lumbar hyperlordosis Feeding difficulties Abnormality of the optic nerve Thickened calvaria Pes planus Cafe-au-lait spot Cleft palate Ataxia Cardiomyopathy Respiratory insufficiency Hip contracture High pitched voice Ophthalmoplegia Neonatal hypotonia Flexion contracture Large hands Prominent supraorbital ridges Thick lower lip vermilion Hypotelorism Deeply set eye Narrow mouth Gait ataxia Slender build Elevated serum creatine phosphokinase Long foot Abnormality of the musculature Abnormality of the sternum Growth abnormality Hypoplasia of the maxilla Arachnodactyly Narrow chest Prominent nasal bridge Pectus carinatum Prominent forehead Kyphosis Intellectual disability, severe Frontal bossing Macrocephaly Congestive heart failure Hypertrophic cardiomyopathy Abnormal heart valve morphology Attention deficit hyperactivity disorder Tricuspid regurgitation Aortic valve stenosis Abnormality of the skin Prominent nose Joint hyperflexibility Pulmonic stenosis Broad forehead Abnormality of the pinna Delayed skeletal maturation Arrhythmia Micrognathia Narrow palate Pointed chin Synophrys EEG abnormality Dilated cardiomyopathy Thin upper lip vermilion Autism Absent speech Hypertelorism Scapuloperoneal weakness Civatte bodies Scapuloperoneal amyotrophy Reduced vital capacity Type 1 muscle fiber predominance Centrally nucleated skeletal muscle fibers Mildly elevated creatine phosphokinase Myopathic facies EMG: myopathic abnormalities Scapular winging Decreased size of nerve terminals


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Macrocephaly and Postaxial hand polydactyly, related diseases and genetic alterations Hydrocephalus and Kyphosis, related diseases and genetic alterations Visual impairment and Gait disturbance, related diseases and genetic alterations