Failure to thrive, and Facial palsy

Diseases related with Failure to thrive and Facial palsy

In the following list you will find some of the most common rare diseases related to Failure to thrive and Facial palsy that can help you solving undiagnosed cases.

Top matches:

Medium match FAZIO-LONDE DISEASE

Fazio-Londe disease is a progressive bulbar palsy with onset in childhood that presents with hypotonia and respiratory insufficiency (summary by Bosch et al., 2011).

FAZIO-LONDE DISEASE Is also known as bulbar palsy, progressive, of childhood

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about FAZIO-LONDE DISEASE

Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 7 Is also known as severe c12orf65-related combined oxidative phosphorylation defect|severe c12orf65-related coxpd|coxpd7

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 7

Autosomal recessive axonal CMT2A2B is a neurologic disorder characterized by onset of peripheral neuropathy in the first years of life. Patients have difficulty walking due to distal muscle weakness; upper limbs may also be affected. Sensory impairment is more variable. Patients often have optic atrophy (summary by Polke et al., 2011).

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B; CMT2A2B

Other less relevant matches:

Progressive external ophthalmoplegia-4 is an autosomal dominant form of mitochondrial disease that variably affects skeletal muscle, the nervous system, the liver, and the gastrointestinal tract. Age at onset ranges from infancy to adulthood. The phenotype ranges from relatively mild, with adult-onset skeletal muscle weakness and weakness of the external eye muscles, to severe, with a multisystem disorder characterized by delayed psychomotor development, lactic acidosis, constipation, and liver involvement (summary by Young et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (OMIM ).

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4; PEOA4 Is also known as progressive external ophthalmoplegia, autosomal dominant 4

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4; PEOA4

EMARDD is a congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis. More variable features include cleft palate and feeding difficulties. There is variable severity: some patients become ventilator-dependent, never achieve walking, and die in childhood, whereas others have a longer and more favorable course (summary by Logan et al., 2011 and Boyden et al., 2012).

EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA SYNDROME Is also known as emardd

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA SYNDROME

Infantile mitochondrial myopathy due to reversible COX deficiency is a rare mitochondrial disorder characterized by onset in infancy of severe hypotonia and generalized muscle weakness associated with lactic acidosis, but is distinguished from other mitochondrial disorders in that affected individuals recover spontaneously after 1 year of age (summary by Mimaki et al., 2010).See also transient infantile liver failure (LFIT ), which is a similar disorder.

MITOCHONDRIAL MYOPATHY WITH REVERSIBLE CYTOCHROME C OXIDASE DEFICIENCY Is also known as mitochondrial myopathy with reversible complex iv deficiency|mitochondrial myopathy with reversible cox deficiency|cox deficiency myopathy, infantile, transient|benign cox deficiency|mitochondrial myopathy, infantile, transient, due to respiratory chain d

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Ptosis
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL MYOPATHY WITH REVERSIBLE CYTOCHROME C OXIDASE DEFICIENCY

Related symptoms:

  • Failure to thrive
  • Strabismus
  • Anemia
  • Feeding difficulties
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8; OPTB8

Autosomal recessive osteopetrosis-5 is a form of infantile malignant osteopetrosis, characterized by defective osteoclast function resulting in decreased bone resorption and generalized osteosclerosis. Defective resorption causes development of densely sclerotic fragile bones and progressive obliteration of the marrow spaces and cranial foramina. Marrow obliteration is associated with extramedullary hematopoiesis and hepatosplenomegaly, and results in anemia and thrombocytopenia, whereas nerve entrapment accounts for progressive blindness and hearing loss. Other major manifestations include failure to thrive, pathologic fractures, and increased infection rate. Most affected children succumb to severe bone marrow failure and overwhelming infection in the first few years of life (Quarello et al., 2004).

OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5 Is also known as osteopetrosis, infantile malignant 3

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Failure to thrive
  • Anemia


SOURCES: MESH OMIM MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5

Medium match RIGID SPINE SYNDROME

Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.

RIGID SPINE SYNDROME Is also known as minicore myopathy, severe classic form|mdrs1|desmin-related myopathy with mallory bodies|multiminicore disease, severe classic form|myopathy, sepn1-related|rigid spine syndrome|muscular dystrophy, congenital, eichsfeld type|rigid spine congenital muscular

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about RIGID SPINE SYNDROME

Medium match BETHLEM MYOPATHY

Bethlem myopathy is a benign autosomal dominant form of slowly progressive muscular dystrophy.

BETHLEM MYOPATHY Is also known as ullrich scleroatonic muscular dystrophy|benign autosomal dominant myopathy|ullrich disease|ullrich congenital muscular dystrophy|muscular dystrophy, scleroatonic|ucmd

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about BETHLEM MYOPATHY

Top 5 symptoms//phenotypes associated to Failure to thrive and Facial palsy

Symptoms // Phenotype % cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Muscle weakness Common - Between 50% and 80% cases
Respiratory insufficiency Uncommon - Between 30% and 50% cases
Generalized muscle weakness Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Failure to thrive and Facial palsy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Optic atrophy Areflexia Myopathy Motor delay Feeding difficulties High palate Global developmental delay Ptosis Hyporeflexia Neonatal hypotonia Hepatomegaly Talipes equinovarus Proximal muscle weakness Increased serum lactate Irritability Respiratory failure Muscular dystrophy Respiratory insufficiency due to muscle weakness Flexion contracture Poor head control Hearing impairment Progressive muscle weakness

Rare Symptoms - Less than 30% cases

Growth delay Generalized amyotrophy Cytochrome C oxidase-negative muscle fibers Lactic acidosis Limb muscle weakness Spinal rigidity Myalgia Muscle fiber necrosis Nocturnal hypoventilation Gastroesophageal reflux Acidosis Elevated serum creatine phosphokinase Blindness Seizures Muscular hypotonia Increased variability in muscle fiber diameter Pneumonia Camptodactyly of finger Hepatic failure Respiratory arrest Waddling gait Neck muscle weakness Anemia Hydrocephalus Thrombocytopenia Congenital muscular dystrophy Hepatosplenomegaly Brain atrophy Respiratory distress Osteopetrosis Short stature Rigidity Nasal speech Hyperlordosis Bulbar palsy Diaphragmatic paralysis Ophthalmoplegia Visual impairment Distal sensory impairment Strabismus External ophthalmoplegia Dysphagia Paralysis Kyphosis Kyphoscoliosis Abnormality of the cerebral white matter Skeletal muscle atrophy Axial muscle weakness Facial diplegia Arnold-Chiari type I malformation Stridor Bilateral ptosis High pitched voice Arnold-Chiari malformation Bone marrow hypocellularity Increased bone mineral density Hip contracture Abnormality of skin pigmentation Hypoventilation Craniosynostosis Muscular hypotonia of the trunk Proptosis Malignant hyperthermia Thoracolumbar scoliosis Right ventricular hypertrophy Cor pulmonale Pathologic fracture Elbow flexion contracture Gowers sign Hypertension Generalized osteosclerosis Extramedullary hematopoiesis Severe vision loss Cranial hyperostosis Absence of renal corticomedullary differentiation Decreased osteoclast count Amyotrophic lateral sclerosis Fever Ventricular hypertrophy Cardiomyopathy Restrictive deficit on pulmonary function testing Congestive heart failure Oral-pharyngeal dysphagia Apnea Cough Arthrogryposis multiplex congenita Edema Peroneal muscle atrophy Abnormality of the rib cage Difficulty climbing stairs Congenital hip dislocation Lissencephaly Torticollis Cachexia Abnormality of mitochondrial metabolism Limb-girdle muscular dystrophy Multiple joint contractures Mildly elevated creatine phosphokinase Ankle contracture Pachygyria Progressive proximal muscle weakness Recurrent lower respiratory tract infections Proximal amyotrophy Follicular hyperkeratosis Type 1 muscle fiber predominance Slender build Impaired mastication Hyperextensibility at wrists Increased laxity of fingers EMG abnormality Growth hormone deficiency Reduced vital capacity Type 1 and type 2 muscle fiber minicore regions Cerebral atrophy Hyperreflexia Sensorineural hearing impairment Orthopnea Crackles Minicore myopathy Hamstring contractures Limited neck flexion Abnormality of skeletal morphology Abnormality on pulmonary function testing Round face Cardiac conduction abnormality Hyperhidrosis Hyperkeratosis Joint laxity Feeding difficulties in infancy Protruding ear Joint stiffness Scarring Hip dislocation Abnormality of metabolism/homeostasis Increased body weight Hypertonia Visual loss Glucose intolerance Bundle branch block Progressive external ophthalmoplegia Ketosis Left bundle branch block Gastroparesis Pes cavus Multiple mitochondrial DNA deletions Cleft palate Exercise intolerance Peripheral neuropathy Paralytic ileus Ileus Increased CSF lactate Polyneuropathy Pectus excavatum Encephalopathy Respiratory tract infection Easy fatigability Cerebral visual impairment Decreased fetal movement Arrhythmia Foot dorsiflexor weakness Decreased nerve conduction velocity Spinal deformities Wrist drop Sensorimotor neuropathy Pain Optic disc pallor Cerebellar atrophy Sensory impairment Difficulty walking Constipation Falls Peripheral axonal neuropathy Elevated hepatic transaminase Talipes Distal muscle weakness Abnormality of the liver Lethargy Developmental regression Recurrent pneumonia Ventriculomegaly Prominent forehead Diaphragmatic weakness Macrocephaly Gait disturbance Frontal bossing Hypoplasia of the corpus callosum Inspiratory stridor Vomiting Splenomegaly Triangular face Increased muscle glycogen content Short chin Leukopenia Short femoral neck Delayed gross motor development Increased head circumference Uncontrolled eye movements Increased density of long bones Microcephaly Muscle fiber hypertrophy Increased muscle lipid content Severe muscular hypotonia Nystagmus Restrictive ventilatory defect Long fingers Difficulty running Increased connective tissue Dysarthria Increased endomysial connective tissue Hypothyroidism Pes planus Ataxia Increased serum pyruvate Macroglossia Progressive inspiratory stridor Lumbar hyperlordosis Ragged-red muscle fibers Myopathic facies Generalized hyperreflexia Mitochondrial myopathy Severe lactic acidosis Decreased plasma carnitine Increased laxity of ankles


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