Feeding difficulties, and Mandibular prognathia

Diseases related with Feeding difficulties and Mandibular prognathia

In the following list you will find some of the most common rare diseases related to Feeding difficulties and Mandibular prognathia that can help you solving undiagnosed cases.

Top matches:

Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior.

DEVELOPMENTAL DELAY WITH AUTISM SPECTRUM DISORDER AND GAIT INSTABILITY Is also known as developmental delay with asd and gait instability

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about DEVELOPMENTAL DELAY WITH AUTISM SPECTRUM DISORDER AND GAIT INSTABILITY

TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME Is also known as distal arthrogryposis type 7|hecht-beals syndrome|mouth, inability to open completely, and short finger-flexor tendons|trismus-pseudocamptodactyly syndrome|hecht syndrome|dutch-kentucky syndrome

Related symptoms:

  • Short stature
  • Micrognathia
  • Abnormal facial shape
  • Ptosis
  • Feeding difficulties


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME

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

Other less relevant matches:

Craniometaphyseal dysplasia is an osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy (summary by Nurnberg et al., 1997).The delineation of separate autosomal dominant and autosomal recessive (CMDR ) forms of CMD by Gorlin et al. (1969) was confirmed by reports that made it evident that the dominant form is relatively mild and comparatively common, while the recessive form is rare, severe, and possibly heterogeneous.

CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CMDD Is also known as cmdj|cmd|craniometaphyseal dysplasia, jackson type

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Sensorineural hearing impairment
  • Feeding difficulties
  • Wide nasal bridge


SOURCES: MESH OMIM MENDELIAN

More info about CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CMDD

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

Hypomyelinating leukodystrophy-17 is an autosomal recessive neurodevelopmental disorder characterized by poor, if any, development apparent from infancy. Affected individuals never learn to walk or speak, and have early-onset multifocal seizures, spasticity, poor overall growth, and microcephaly (up to -10 SD). Brain imaging shows multiple abnormalities, including cerebral and cerebellar atrophy, thin corpus callosum, abnormal signals in the basal ganglia, and features suggesting hypo- or demyelination. Some patients may die in childhood (summary by Shukla et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see {312080}.

Related symptoms:

  • Seizures
  • Microcephaly
  • Spasticity
  • Flexion contracture
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about LEUKODYSTROPHY, HYPOMYELINATING, 17; HLD17

Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid (see this term) with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome (see this term).

CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME Is also known as oculootofacial dysplasia|burn-mckeown syndrome|oofd

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME

High match SLC35A2-CDG

SLC35A2-CDG is a congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum).

SLC35A2-CDG Is also known as cdg iim|congenital disorder of glycosylation type iim|cdgiim|eiee22|cdg2m|congenital disorder of glycosylation type 2m|cdg syndrome type iim|cdg-iim|epileptic encephalopathy, early infantile, 22

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SLC35A2-CDG

X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.

X-LINKED CREATINE TRANSPORTER DEFICIENCY Is also known as slc6a8 deficiency|mental retardation, x-linked, with creatine transport deficiency|creatine deficiency syndrome, x-linked|mental retardation, x-linked, with seizures, short stature, and midface hypoplasia|creatine transporter deficiency|creatine transport

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED CREATINE TRANSPORTER DEFICIENCY

D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.

D-2-HYDROXYGLUTARIC ACIDURIA Is also known as d-2-hga|d-2-hydroxyglutaric acidemia|d2hga

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about D-2-HYDROXYGLUTARIC ACIDURIA

Top 5 symptoms//phenotypes associated to Feeding difficulties and Mandibular prognathia

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Wide nasal bridge Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Ptosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Feeding difficulties and Mandibular prognathia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Micrognathia Global developmental delay Absent speech Malar flattening Hypoplasia of the corpus callosum Hypertelorism Arthrogryposis multiplex congenita Long face Hypsarrhythmia Muscular hypotonia Macrocephaly Cerebral atrophy Muscle weakness Abnormal facial shape Short stature Hyperactivity

Rare Symptoms - Less than 30% cases

Motor delay Facial palsy Irritability Flexion contracture Dental malocclusion Respiratory insufficiency Decreased fetal movement Easy fatigability Gowers sign Vomiting Weak cry Respiratory distress Fatigable weakness Neonatal hypotonia Cerebellar atrophy Apnea Hearing impairment Mixed hearing impairment Narrow palpebral fissure Sensorineural hearing impairment Spasticity Blindness Behavioral abnormality Conductive hearing impairment Anteverted nares Prominent forehead High palate Feeding difficulties in infancy Muscle cramps Self-mutilation Protruding ear Strabismus Aggressive behavior Dysphagia Encephalopathy Open mouth Coarse facial features Epileptic encephalopathy Abnormality of metabolism/homeostasis Poor suck Delayed myelination Hypermetropia Dystonia Unilateral cleft lip Midface retrusion Intellectual disability, moderate Constipation Pes cavus Muscular hypotonia of the trunk Secundum atrial septal defect Hypomimic face Eyelid coloboma External ear malformation 2-3 toe syndactyly Autistic behavior Attention deficit hyperactivity disorder Median cleft palate Recurrent infections Bilateral choanal atresia Thick vermilion border Ocular flutter Ataxia Failure to thrive Cognitive impairment Delayed speech and language development Epileptic spasms Nephrotic syndrome Gait disturbance Intellectual disability, severe Lower eyelid coloboma Thick eyebrow Hypertonia Gastroesophageal reflux Rod-cone dystrophy Cerebellar hypoplasia Aplasia/hypoplasia of the extremities Nystagmus Bilateral choanal atresia/stenosis Broad forehead Athetosis Ophthalmoplegia Stridor Dolichocephaly Lethargy Flat face Broad nasal tip Aciduria Focal-onset seizure Involuntary movements Cerebral visual impairment Absence seizures Severe muscular hypotonia Aortic regurgitation Shock Focal impaired awareness seizure Turricephaly Cerebral cortical atrophy Increased CSF protein Dilation of lateral ventricles Delayed CNS myelination Periventricular leukomalacia Episodic vomiting Generalized tonic seizures Inspiratory stridor Narrow naris Anteverted ears Infantile encephalopathy Glutaric aciduria Cardiogenic shock Subependymal cysts D-2-hydroxyglutaric aciduria Skeletal dysplasia Brachycephaly Joint hyperflexibility Mask-like facies Joint hypermobility Parkinsonism Chorea Choreoathetosis Clumsiness Aganglionic megacolon Tall stature Stereotypy Exotropia Narrow face External ophthalmoplegia Cachexia Redundant skin Language impairment Abnormal palate morphology Myoclonus Myopathic facies Chronic constipation Speech apraxia Ileus Impaired social interactions Urethral stenosis Duodenal ulcer Abnormality of creatine metabolism Poor hand-eye coordination Underfolded superior helices Visual impairment Frontal bossing Ventriculomegaly Cardiomyopathy Abnormality of vision Ventricular septal defect Preauricular skin tag Limb-girdle muscle weakness Tall chin Dysarthria Skeletal muscle atrophy Fatigue Respiratory failure Proximal muscle weakness Limb muscle weakness Respiratory insufficiency due to muscle weakness Ophthalmoparesis Decreased muscle mass Abnormality of the immune system Type 2 muscle fiber atrophy Cutaneous syndactyly of toes EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Decreased size of nerve terminals Delayed eruption of teeth Otitis media Overgrowth Tinnitus Abnormality of pelvic girdle bone morphology Increased susceptibility to fractures Metaphyseal widening Chronic otitis media Hyperostosis Calcaneovalgus deformity Symphalangism affecting the phalanges of the hand Osteomyelitis Hip dislocation Poor speech Unsteady gait Narrow palate Sandal gap Plagiocephaly Impulsivity Blue irides Diminished ability to concentrate Talipes equinovarus Syndactyly Camptodactyly Abnormality of the foot Trismus Facial asymmetry Talipes Limitation of joint mobility Hip dysplasia Cutaneous syndactyly Deep philtrum Hammertoe Metatarsus adductus Mild short stature Short finger Abnormality of the musculature Distal arthrogryposis Flared metaphysis Abnormality of the vertebral column Renal dysplasia Coloboma Low hanging columella Multifocal seizures Cleft palate Atrial septal defect Short nose Hernia Inguinal hernia Narrow mouth Cleft lip Abnormality of the eye Blepharophimosis Abnormal cardiac septum morphology Spontaneous abortion Short philtrum Prominent nasal bridge Anal atresia Cleft upper lip Thin vermilion border Hypoplasia of the maxilla Bifid uvula Prominent nose Underdeveloped nasal alae Renal hypoplasia Short palpebral fissure Choanal atresia Widely spaced teeth Leukodystrophy Metaphyseal dysplasia Bony paranasal bossing Misalignment of teeth Nasal obstruction Sclerosis of skull base Abnormality of the nasopharynx Cranial nerve compression Erlenmeyer flask deformity of the femurs Unilateral facial palsy Bilateral facial palsy Calvarial osteosclerosis Asymmetry of the mandible Club-shaped distal femur Low-set ears Gingival overgrowth Respiratory tract infection Falls Generalized muscle weakness Frequent falls Multiple joint contractures Prominent occiput Hyperreflexia Kyphoscoliosis Hirsutism Inability to walk Peripheral demyelination Intellectual disability, profound Multifocal cerebral white matter abnormalities


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