Feeding difficulties, and Joint hypermobility

Diseases related with Feeding difficulties and Joint hypermobility

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

Top matches:

Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported.

CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION Is also known as mdcl|lmna-related congenital muscular dystrophy|l-cmd

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION

BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE Is also known as bmrs, mkb type|bmrs, maat-kievit-brunner type|blepharophimosis-intellectual disability syndrome, maat-kievit-brunner type|blepharophimosis-mental retardation syndrome, maat-kievit-brunner type|x-linked ohdo syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Micrognathia
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE

NEDMIAL is a neurodevelopmental disorder characterized by severely delayed psychomotor development and hypotonia apparent from early infancy, resulting in feeding difficulties, ataxic gait or inability to walk, minimal or absent speech development, and severe intellectual disability, often with behavioral abnormalities, such as hand-flapping. Additional common features may include sleep disorder, nonspecific dysmorphic facial features, and joint hyperlaxity (summary by Lessel et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE; NEDMIAL

Other less relevant matches:

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

Related symptoms:

  • Microcephaly
  • Growth delay
  • Failure to thrive
  • Micrognathia
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 2; MGORS2

Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement.

AUTOSOMAL DOMINANT CUTIS LAXA Is also known as adcl

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Feeding difficulties
  • Fatigue
  • Respiratory distress


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT CUTIS LAXA

NDHMSD is a severe neurodevelopmental disorder characterized by profound developmental delay, severe intellectual disability with absent speech, muscular hypotonia, and a hyperkinetic movement disorder. Additional features may include cortical blindness, generalized cerebral atrophy, and seizures (summary by Lemke et al., 2016).

NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD Is also known as mrd8, formerly|mental retardation, autosomal dominant 8, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD

Intellectual developmental disorder with dysmorphic facies and ptosis is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and dysmorphic facial features, most notably ptosis/blepharophimosis. Additional features may include poor growth, hypotonia, and seizures (summary by Mattioli et al., 2017).See also chromosome 3p deletion syndrome (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS; IDDDFP

Okur-Chung neurodevelopmental syndrome is an autosomal dominant disorder characterized by delayed psychomotor development, intellectual disability with poor speech, behavioral abnormalities, cortical malformations in some patients, and variable dysmorphic facial features. Additional features, including microcephaly, gastrointestinal problems, and low levels of immunoglobulins, may be observed in some patients (Okur et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME; OCNDS

Top 5 symptoms//phenotypes associated to Feeding difficulties and Joint hypermobility

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

Other less frequent symptoms

Patients with Feeding difficulties and Joint hypermobility. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Delayed speech and language development Abnormal facial shape Epicanthus High palate Hypertelorism Ptosis Wide nasal bridge Growth delay Failure to thrive Narrow mouth Camptodactyly Delayed ability to walk Scoliosis Clinodactyly Gastroesophageal reflux Micrognathia Talipes equinovarus Cryptorchidism Absent speech Strabismus

Rare Symptoms - Less than 30% cases

Low-set ears Ataxia Ventriculomegaly Cerebellar atrophy Cerebral atrophy Involuntary movements Gait ataxia Thin upper lip vermilion Infantile spasms Emphysema Abnormality of the pinna Intrauterine growth retardation Hypoplasia of the corpus callosum Constipation Short philtrum Agenesis of corpus callosum Aggressive behavior Spasticity Joint laxity Respiratory failure Bruxism Atonic seizures Inability to walk Synophrys Anteverted nares Chorea Muscular hypotonia Severe muscular hypotonia Poor head control Motor delay Congenital muscular dystrophy Muscle weakness Spinal rigidity Neck muscle weakness Respiratory insufficiency Myopathy Hearing impairment Flexion contracture Long philtrum Blepharophimosis Limb muscle weakness Joint hyperflexibility Smooth philtrum Muscular dystrophy Respiratory insufficiency due to muscle weakness Visual impairment Pain Repeated pneumothoraces Hyperreflexia Protruding tongue Broad forehead IgA deficiency Intellectual disability, severe Blindness Aortic rupture Cortical gyral simplification Myoclonus Pachygyria Hyperactivity Autism Decreased antibody level in blood Encephalopathy Premature skin wrinkling Bowel diverticulosis Abnormal heart valve morphology Hoarse voice Aortic regurgitation Cutis laxa Venous thrombosis Systemic lupus erythematosus Redundant skin Aortic aneurysm Stridor Heart murmur Prematurely aged appearance Uterine prolapse Aortic root aneurysm Pulmonary artery stenosis Heart block Aortic dissection Raynaud phenomenon Right ventricular hypertrophy Deeply set eye Upper airway obstruction Subglottic stenosis EEG abnormality Abnormality of eye movement Intellectual disability, moderate Language impairment Dysphagia Brachydactyly Unilateral cryptorchidism Global brain atrophy Abnormality of the face Disproportionate tall stature Abnormal myelination Profound global developmental delay Vertebral fusion Oculogyric crisis Behavioral abnormality Bilateral ptosis Round face Downturned corners of mouth Flat face Abnormality of the cerebral white matter Inappropriate crying Short stature Downslanted palpebral fissures Edema Self-injurious behavior Focal impaired awareness seizure Highly arched eyebrow Epileptic encephalopathy Abnormality of the eye Autistic behavior Abnormal pyramidal sign Wide mouth Abnormality of movement Thick eyebrow Dyskinesia Tetraplegia Febrile seizures Generalized-onset seizure Spastic tetraparesis Hypotelorism Spastic tetraplegia Hypsarrhythmia Status epilepticus Tetraparesis Poor speech Cerebral visual impairment Progressive microcephaly Attention deficit hyperactivity disorder Bronchiectasis Aplasia of the inferior half of the cerebellar vermis Mitral regurgitation Pectus excavatum Decreased body weight Cafe-au-lait spot Scrotal hypoplasia Dystonia Pes planus Everted lower lip vermilion Tapered finger Delayed myelination Low frustration tolerance Recurrent respiratory infections Triangular face Hyperkeratosis Neonatal hypotonia Delayed puberty Dry skin EMG: myopathic abnormalities Congenital contracture Increased variability in muscle fiber diameter Multiple joint contractures Mildly elevated creatine phosphokinase Prominent nose Bulbous nose Centrally nucleated skeletal muscle fibers Limitation of joint mobility Skeletal muscle atrophy Gait disturbance Congestive heart failure Arrhythmia Elevated serum creatine phosphokinase Hyperlordosis Narrow chest Abnormality of the foot Talipes Decreased fetal movement Thin vermilion border Myocardial infarction EMG abnormality Cachexia Generalized amyotrophy Limb-girdle muscle weakness Axial muscle weakness Depressed nasal bridge Coarse facial features Carcinoma Weak cry Overweight Ventricular hypertrophy Respiratory distress Tracheomalacia Hypoplastic labia majora Labial hypoplasia Patellar aplasia Breast hypoplasia Aplasia/Hypoplasia of the patella Bronchomalacia Birth length less than 3rd percentile Fatigue Renal insufficiency High pitched voice Dilatation Hernia Inguinal hernia Dyspnea Umbilical hernia Skin rash Pulmonic stenosis Full cheeks Coarctation of aorta Slender long bone Clitoral hypertrophy Follicular hyperkeratosis Upslanted palpebral fissure Generalized joint laxity Pes valgus Minicore myopathy Gastrostomy tube feeding in infancy Abnormal elasticity of skin Ventricular septal defect Atrial septal defect Abnormal heart morphology Posteriorly rotated ears Telecanthus Underdeveloped nasal alae Abnormality of digit Curly hair Mild microcephaly Periventricular leukomalacia Small cerebral cortex Delayed skeletal maturation Postnatal growth retardation Microtia Dolichocephaly IgG deficiency


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