High palate, and Feeding difficulties in infancy

Diseases related with High palate and Feeding difficulties in infancy

In the following list you will find some of the most common rare diseases related to High palate and Feeding difficulties in infancy 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

Congenital lethal myopathy, Compton-North type is a rare, genetic, lethal, non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed.

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Flexion contracture
  • High palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL LETHAL MYOPATHY, COMPTON-NORTH TYPE

Fast-channel congenital myasthenic syndrome (FCCMS) 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 (AChR) channel, specifically from abnormally brief opening and activity of the channel, with a rapid decay in endplate current and a failure to reach the threshold for depolarization. Treatment with pyridostigmine or amifampridine may be helpful; quinine, quinidine, and fluoxetine should be avoided (summary by Sine et al., 2003 and Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Ptosis
  • High palate


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL; CMS1B

Other less relevant 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 cholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11 Is also known as cms1e, formerly|myasthenic syndrome, congenital, ie, formerly|cms ie, formerly

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscle weakness
  • Ptosis


SOURCES: MESH OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11

CONGENITAL MUSCULAR DYSTROPHY-RESPIRATORY FAILURE-SKIN ABNORMALITIES-JOINT HYPERLAXITY SYNDROME Is also known as congenital muscular dystrophy, davignon-chauveau type

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Cryptorchidism
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY-RESPIRATORY FAILURE-SKIN ABNORMALITIES-JOINT HYPERLAXITY SYNDROME

Myofibrillar myopathy-8 is an autosomal recessive myopathy characterized by childhood onset of slowly progressive proximal muscle weakness and atrophy resulting in increased falls, gait problems, and difficulty running or climbing stairs. Upper and lower limbs are affected, and some individuals develop distal muscle weakness and atrophy. Ambulation is generally preserved, and patients do not have significant respiratory compromise. Muscle biopsy shows a mix of myopathic features, including myofibrillar inclusions and sarcomeric disorganization (summary by O'Grady et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, MYOFIBRILLAR, 8; MFM8

cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF Is also known as cobalamin, defect in lysosomal release of|cobalamin f defect|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblf|cblf|vitamin b12 storage disease|vitamin b12 lysosomal release defect|methylmalonic aciduria due to vitamin b12-rele

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF

Intellectual disability, Birk-Barel type is a rare, genetic, syndromic intellectual disability characterized by congenital central hypotonia, developmental delay, moderate to severe intellectual disability and subtle dysmorphic features which evolve over time (dolichocephaly, myopathic facies, ptosis, short and broad philtrum, tented upper lip vermillion, palatal anomalies, mild micro- and/or retrognathia). Patients present reduced facial movements, lethargy, weak cry, transient neonatal hypoglycemia, severe feeding difficulties and failure to thrive. Dysphagia, particularly of solid food, asthenic body build, joint contractures and scoliosis are additional features.

INTELLECTUAL DISABILITY, BIRK-BAREL TYPE Is also known as intellectual disability-hypotonia-facial dysmorphism syndrome|birk-barel mental retardation dysmorphism syndrome|mental retardation with hypotonia and facial dysmorphism

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY, BIRK-BAREL TYPE

Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY Is also known as myopathy, centronuclear, autosomal recessive|myotubular myopathy, autosomal recessive|ar-cnm

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY

Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., 2010).For a discussion of genetic heterogeneity of Crisponi/cold-induced sweating syndrome, see CISS1 (OMIM ).

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Pain
  • Low-set ears


SOURCES: OMIM MESH MENDELIAN

More info about CRISPONI/COLD-INDUCED SWEATING SYNDROME 2; CISS2

Top 5 symptoms//phenotypes associated to High palate and Feeding difficulties in infancy

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Feeding difficulties Common - Between 50% and 80% cases
Neonatal hypotonia Common - Between 50% and 80% cases
Flexion contracture Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with High palate and Feeding difficulties in infancy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia Scoliosis Facial palsy Ptosis Poor suck Motor delay Respiratory insufficiency Myopathy Respiratory insufficiency due to muscle weakness Dysphagia Gowers sign Easy fatigability Generalized muscle weakness Low-set ears Weak cry Neck muscle weakness Progressive muscle weakness Intellectual disability Areflexia

Rare Symptoms - Less than 30% cases

Muscular hypotonia Recurrent respiratory infections Long face Delayed speech and language development Multiple joint contractures Frequent falls Falls Dysphonia EMG: myopathic abnormalities Global developmental delay Generalized amyotrophy Proximal muscle weakness Pes cavus Hyperlordosis Peripheral neuropathy Protruding ear Scapular winging Difficulty climbing stairs Seizures Difficulty running Centrally nucleated skeletal muscle fibers Spinal rigidity Congenital contracture Poor head control Limb muscle weakness Respiratory tract infection Apnea Abnormal facial shape Skeletal muscle atrophy Distal muscle weakness Decreased fetal movement Hypertelorism Facial diplegia Retrognathia Camptodactyly Small for gestational age Ophthalmoparesis High, narrow palate Arthrogryposis multiplex congenita Dolichocephaly Dysarthria Narrow forehead Cleft palate Intellectual disability, mild Congestive heart failure Talipes equinovarus Cystathioninemia Kyphosis Narrow mouth Cystathioninuria Cardiomyopathy Babinski sign Cognitive impairment Neonatal hypoglycemia Highly arched eyebrow Sacral dimple Poor speech Tented upper lip vermilion Short philtrum Spinal muscular atrophy Oral-pharyngeal dysphagia Broad eyebrow Intellectual disability, severe Hypoglycemia Tented philtrum Decreased methionine synthase activity Hyperactivity Submucous cleft soft palate Broad nasal tip Depressivity Thick eyebrow EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Dyspnea Cubitus valgus Abnormality of the foot Full cheeks Round face Lumbar hyperlordosis Sensorimotor neuropathy Elbow flexion contracture Abnormal autonomic nervous system physiology Scaling skin Radial deviation of finger Carcinoma 2-3 toe syndactyly Opisthotonus Limited elbow extension Renal cell carcinoma Thoracolumbar scoliosis Trismus Excessive salivation Unexplained fevers Carious teeth Kyphoscoliosis Difficulty walking Abnormal heart valve morphology Ophthalmoplegia Bifid uvula Waddling gait Left ventricular hypertrophy External ophthalmoplegia Bilateral ptosis Long fingers Exertional dyspnea Hip contracture Hyperhidrosis Type 1 muscle fiber predominance Axial muscle weakness Megaloblastic bone marrow Pain Depressed nasal bridge Anteverted nares Long philtrum Syndactyly Clinodactyly Decreased adenosylcobalamin Ataxia Decreased methylcobalamin Muscular dystrophy Fatigable weakness Cryptorchidism Pectus excavatum Respiratory failure Hyperkeratosis Gastroesophageal reflux Joint laxity Delayed puberty Narrow palpebral fissure Dry skin Severe muscular hypotonia Congenital muscular dystrophy Increased variability in muscle fiber diameter Mildly elevated creatine phosphokinase Overweight Follicular hyperkeratosis Generalized joint laxity Prominent occiput Dental malocclusion Minicore myopathy Scaphocephaly Fatigue Growth delay Polyhydramnios Arachnodactyly Single transverse palmar crease Joint contracture of the hand Akinesia Fetal akinesia sequence Mandibular prognathia Overlapping fingers Oval face Macrotia Bulbar palsy Type 2 muscle fiber atrophy Decreased miniature endplate potentials Wide nasal bridge Respiratory distress Pes valgus Gastrostomy tube feeding in infancy Hyperhomocystinemia Incoordination Microtia Lethargy Neutropenia Aciduria Abnormality of the skin Pancytopenia Psychosis Rheumatoid arthritis Developmental regression Macrocytic anemia Megaloblastic anemia Juvenile rheumatoid arthritis Stomatitis Methylmalonic aciduria Homocystinuria Methylmalonic acidemia Glossitis Skin rash Arthritis Abnormal elasticity of skin Progressive proximal muscle weakness Hyporeflexia Elevated serum creatine phosphokinase Pes planus Peripheral axonal neuropathy Dental crowding Tall stature Nasal speech Nemaline bodies Thin upper lip vermilion Myofibrillar myopathy Reduced vital capacity Failure to thrive Anemia Epicanthus Thrombocytopenia Abnormal heart morphology Acidosis Cold-induced sweating


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