Abnormal facial shape, and Peripheral demyelination

Diseases related with Abnormal facial shape and Peripheral demyelination

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Peripheral demyelination that can help you solving undiagnosed cases.


Top matches:

Low match SPECIFIC LANGUAGE IMPAIRMENT 5; SLI5


Specific language impairment-5 is characterized by a delay in early speech acquisition and is usually associated with cerebral white matter abnormalities on brain MRI. Some individuals may show disorders in communication, consistent with autism spectrum disorder, or global developmental delay, although others ultimately show normal cognitive function. Penetrance is incomplete and expressivity is variable. This type of disorder is observed most commonly among individuals of East Asian descent (summary by Wiszniewski et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of specific language impairment, see SLI1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Abnormal facial shape
  • Delayed speech and language development
  • Autism
  • Autistic behavior


SOURCES: OMIM MENDELIAN

More info about SPECIFIC LANGUAGE IMPAIRMENT 5; SLI5

Low match GALLOWAY-MOWAT SYNDROME 5; GAMOS5


Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism and ear abnormalities. Other features, such as arachnodactyly and visual or hearing impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 5; GAMOS5

Low match SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE A


Molybdenum cofactor deficiency (MOCOD) is a rare autosomal recessive metabolic disorder characterized by onset in infancy of poor feeding, intractable seizures, and severe psychomotor retardation. Characteristic biochemical abnormalities include decreased serum uric acid and increased urine sulfite levels due to the combined enzymatic deficiency of xanthine dehydrogenase (XDH ) and sulfite oxidase (SUOX ), both of which use molybdenum as a cofactor. Most affected individuals die in early childhood (summary by Reiss, 2000; Reiss et al., 2011). Genetic Heterogeneity of Molybdenum Cofactor DeficiencySee also MOCOD, complementation group B (MOCODB ), caused by mutation in the MOCS2 gene (OMIM ) on chromosome 5q11; and MOCOD, complementation group C (MOCODC ), caused by mutation in the GPHN gene (OMIM ) on chromosome 14q24.

SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE A Is also known as sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, combined deficiency of|combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type a|mocod type a

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE A

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Other less relevant matches:

Low match SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE B


Molybdenum cofactor deficiency is a rare autosomal recessive metabolic disorder characterized by neonatal onset of intractable seizures, opisthotonus, and facial dysmorphism associated with hypouricemia and elevated urinary sulfite levels. Affected individuals show severe neurologic damage and often die in early childhood (summary by Reiss et al., 1999).For a general phenotypic description and a discussion of genetic heterogeneity of MOCOD, see MOCODA (OMIM ), which is clinically indistinguishable from MOCODB.

SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE B Is also known as combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type b|mocod type b

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE B

Low match PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER); PBD12A


Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 14 (CG14, equivalent to CGJ) have mutations in the PEX19 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER); PBD12A

Low match LEIGH SYNDROME; LS


Leigh syndrome is an early-onset progressive neurodegenerative disorder with a characteristic neuropathology consisting of focal, bilateral lesions in one or more areas of the central nervous system, including the brainstem, thalamus, basal ganglia, cerebellum, and spinal cord. The lesions are areas of demyelination, gliosis, necrosis, spongiosis, or capillary proliferation. Clinical symptoms depend on which areas of the central nervous system are involved. The most common underlying cause is a defect in oxidative phosphorylation (Dahl, 1998).Leigh syndrome may be a feature of a deficiency of any of the mitochondrial respiratory chain complexes: complex I deficiency (OMIM ), complex II deficiency (OMIM ), complex III deficiency (OMIM ), complex IV deficiency (cytochrome c oxidase; {220110}), or complex V deficiency (OMIM ).

LEIGH SYNDROME; LS Is also known as necrotizing encephalopathy, infantile subacute, of leigh|sne

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LEIGH SYNDROME; LS

Low match CONGENITAL LACTIC ACIDOSIS, SAGUENAY-LAC-SAINT-JEAN TYPE


Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.

CONGENITAL LACTIC ACIDOSIS, SAGUENAY-LAC-SAINT-JEAN TYPE Is also known as cytochrome oxidase deficiency, saguenay-lac-saint-jean type|cytochrome c oxidase deficiency, french canadian type|cytochrome c oxidase deficiency, french-canadian type|cox deficiency, french canadian type|leigh syndrome, french-canadian type|slsj-cox defi

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL LACTIC ACIDOSIS, SAGUENAY-LAC-SAINT-JEAN TYPE

Low match CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME


Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.

CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME Is also known as ccfdn|cataract, congenital, with facial dysmorphism and neuropathy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME

Low match CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1


Cerebrooculofacioskeletal syndrome is an autosomal recessive progressive neurodegenerative disorder characterized by microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis (summary by Jaakkola et al., 2010). Genetic Heterogeneity of Cerebrooculofacioskeletal SyndromeSee also COFS2 (OMIM ), caused by mutation in the ERCC2 gene (OMIM ); COFS3 (OMIM ), caused by mutation in the ERCC5 gene (OMIM ); and COFS4 (OMIM ), caused by mutation in the ERCC1 gene (OMIM ).

CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1 Is also known as cofs syndrome|cofs|pena-shokeir syndrome, type ii

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1

Low match FRIEDREICH ATAXIA


Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing.

FRIEDREICH ATAXIA Is also known as frda1|fa|frda

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRIEDREICH ATAXIA

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Peripheral demyelination

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Cerebral atrophy Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Peripheral demyelination. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Gliosis Microcephaly Ataxia Ventriculomegaly Hypertelorism Growth delay Hearing impairment Dysphagia CNS demyelination Failure to thrive Hyperreflexia Strabismus Hypoplasia of the corpus callosum Axonal loss Long philtrum Truncal ataxia Neurodegeneration Hypertrophic cardiomyopathy Muscular hypotonia Cardiomyopathy Dystonia Intention tremor Spasticity Kyphosis Deeply set eye Kyphoscoliosis

Rare Symptoms - Less than 30% cases


Talipes equinovarus Abnormality of eye movement Pallor Developmental regression Muscular hypotonia of the trunk Abnormal pyramidal sign Difficulty walking Acidosis Congenital cataract Dysmetria Gait disturbance Optic atrophy Dysarthria Ptosis Sensory neuropathy Sensorineural hearing impairment Chorea Decreased motor nerve conduction velocity Insulin resistance Lactic acidosis Metabolic acidosis Peripheral neuropathy Hypoglycemia Microphthalmia Muscle weakness Babinski sign Micrognathia Scoliosis Wide nasal bridge Pes cavus Hirsutism Cerebellar hypoplasia Increased serum lactate Intellectual disability, mild Respiratory distress Osteoporosis Tremor Asymmetric septal hypertrophy Increased CSF lactate Incoordination Cerebral cortical atrophy Optic disc pallor Prominent nose Cataract Short stature Ectopia lentis Xanthine nephrolithiasis Xanthinuria Increased urinary hypoxanthine Molybdenum cofactor deficiency Short nose Brain atrophy Hypouricemia Myoclonic spasms Lens luxation Opisthotonus Spastic tetraparesis Encephalopathy Tetraparesis Feeding difficulties Spastic tetraplegia Neuronal loss in central nervous system Macrocephaly Frontal bossing Hydrocephalus Hypertonia Full cheeks Thick vermilion border Long face Epicanthus Increased urinary taurine Delayed speech and language development Abnormality of the ear Flexion contracture Arthrogryposis multiplex congenita Muscular dystrophy Dilated cardiomyopathy Prominent nasal bridge Blepharophimosis Limb muscle weakness Camptodactyly Macrotia Agenesis of corpus callosum Intellectual disability, severe Abnormality of the foot Abnormality of movement Reduced visual acuity Cryptorchidism Peripheral hypomyelination Lower limb muscle weakness Unsteady gait Vertigo Peripheral axonal neuropathy Tachycardia Falls Inability to walk Abnormal cerebellum morphology Progressive cerebellar ataxia Chest pain Sensory impairment Pes planus Hyperactivity Gait ataxia Congestive heart failure Osteopetrosis Miosis Long ear Congenital muscular dystrophy Deep longitudinal plantar crease Second metatarsal posteriorly placed Pain Visual impairment Knee flexion contracture Fatigue Cerebellar atrophy Coxa valga Elbow flexion contracture Rocker bottom foot Joint contracture of the hand Depressivity Cutaneous photosensitivity Intellectual disability, profound Sloping forehead Visual loss Cerebral calcification Wide intermamillary distance Delayed myelination Arrhythmia Areflexia Diabetes mellitus Thin vermilion border Ventricular hypertrophy Muscle stiffness Atrial fibrillation Cerebellar cortical atrophy Subvalvular aortic stenosis T-wave inversion Poor fine motor coordination Abnormal echocardiogram Lower limb amyotrophy Positive Romberg sign Abnormality of cardiovascular system physiology Abnormal saccadic eye movements Sinus tachycardia Hand muscle atrophy Reduced systolic function Decreased sensory nerve conduction velocity Diabetic ketoacidosis Concentric hypertrophic cardiomyopathy Upper limb amyotrophy Gait imbalance Abnormality of the dentate nucleus Impaired visually enhanced vestibulo-ocular reflex Structural foot deformity Abolished vibration sense Spinal cord posterior columns myelin loss Palmar hyperhidrosis Temporal optic disc pallor Decreased pyruvate carboxylase activity Incomprehensible speech Mitochondrial malic enzyme reduced Cervical spinal cord atrophy Muscular subvalvular aortic stenosis Decreased amplitude of sensory action potentials Hemifacial hypertrophy Abnormality of the autonomic nervous system Impaired proprioception Spinocerebellar tract degeneration Palpitations Impaired vibratory sensation Clumsiness Involuntary movements Left ventricular hypertrophy Lower limb spasticity Limb ataxia Spastic gait Upper limb postural tremor Paraparesis Spastic paraparesis Reduced tendon reflexes Ventricular arrhythmia Slurred speech Cachexia Dysdiadochokinesis Hammertoe Hyposmia Heart block Areflexia of lower limbs Myocardial fibrosis Increased reactive oxygen species production Ketoacidosis Urinary bladder sphincter dysfunction Ketosis Abnormality of visual evoked potentials Sensory axonal neuropathy Abnormal EKG Thoracic scoliosis Optic neuropathy Hyperactive deep tendon reflexes Visual field defect Glucose intolerance Acute rhabdomyolysis Autism Malar prominence Progressive microcephaly Decreased urinary sulfate Respiratory insufficiency Sulfite oxidase deficiency Respiratory failure Abnormal muscle tone Abnormality of the eye Ophthalmoplegia Hemiplegia Poor head control Pigmentary retinopathy Hypertrichosis Progressive neurologic deterioration Leukodystrophy Failure to thrive in infancy Skeletal muscle atrophy Emotional lability Abnormal pattern of respiration Respiratory arrest Decreased activity of the pyruvate dehydrogenase complex Hepatocellular necrosis Mitochondrial respiratory chain defects Episodic metabolic acidosis Anteverted nares Malar flattening Midface retrusion Absent speech Hypospadias Severe global developmental delay Prominent forehead Increased urinary sulfite Reduced xanthine dehydrogenase activity Stroke Cholelithiasis Diffuse cerebral atrophy Atrial septal defect Patent ductus arteriosus Elevated hepatic transaminase Neonatal hypotonia Hepatic failure Triangular face Sepsis Cardiorespiratory arrest Decreased fetal movement Decreased body weight Wide anterior fontanel Hyperbilirubinemia Central hypotonia Increased urinary thiosulfate Scaphocephaly Double outlet right ventricle Renal tubular dysfunction Abnormal cortical bone morphology Delayed closure of the anterior fontanelle Periorbital fullness Irritability Cranial asymmetry Elevated long chain fatty acids Abnormality of the hairline Abnormality of the male genitalia Aldehyde oxidase deficiency Absent urinary urothione Decreased urinary urate Feeding difficulties in infancy EEG abnormality Recurrent myoglobinuria Hypergonadotropic hypogonadism Language impairment Paresthesia Small hand Abnormality of the cerebral white matter Polyneuropathy Microcornea Autistic behavior Decreased testicular size Amenorrhea Interphalangeal joint contracture of finger Primary amenorrhea Split hand Long eyelashes Hypogonadotrophic hypogonadism Camptodactyly of finger CNS hypomyelination Postural tremor Hepatomegaly Axonal degeneration Secondary amenorrhea Rhabdomyolysis Myoglobinuria Malignant hyperthermia Genu recurvatum Motor axonal neuropathy Decreased serum estradiol Abnormality of peripheral nerve conduction Motor polyneuropathy Abnormality of the cervical spine Mandibular prognathia Myalgia Hepatic steatosis Congenital lactic acidosis Highly arched eyebrow Coma Broad-based gait Decreased liver function Low anterior hairline Shock Leukoencephalopathy Tachypnea Poor suck Hyperglycemia Anteriorly placed anus Stroke-like episode Breathing dysregulation Microvesicular hepatic steatosis Increased hepatocellular lipid droplets Proximal muscle weakness Cognitive impairment Motor delay Fever Intrauterine growth retardation Abnormality of the skeletal system Focal segmental glomerulosclerosis Abnormality of the dentition Glomerulosclerosis Pachygyria Nephrotic syndrome Stage 5 chronic kidney disease Hypogonadism Arachnodactyly Proteinuria Atrophic superior cerebellar peduncle



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