Ataxia, and Midface retrusion

Diseases related with Ataxia and Midface retrusion

In the following list you will find some of the most common rare diseases related to Ataxia and Midface retrusion that can help you solving undiagnosed cases.


Top matches:

Medium match SCLEROSTEOSIS 2; SOST2


Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa (summary by Brunkow et al., 2001).For a discussion of genetic heterogeneity of sclerosteosis, see SOST1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Macrocephaly
  • Gait disturbance
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about SCLEROSTEOSIS 2; SOST2

Medium match DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6; DKCB6


Autosomal recessive dyskeratosis congenita-6 is a bone marrow failure disorder associated with abnormal skin pigmentation, nail dystrophy, oral leukoplakia, microcephaly, and developmental delay (summary by Tummala et al., 2015).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6; DKCB6

Medium match OPTIC ATROPHY 11; OPA11


OPA11 is an autosomal recessive disorder characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy on brain imaging. Laboratory studies are consistent with mitochondrial dysfunction (summary by Hartmann et al., 2016).For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about OPTIC ATROPHY 11; OPA11

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Other less relevant matches:

Medium match X-LINKED CREATINE TRANSPORTER DEFICIENCY


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

Medium match INFANTILE MULTISYSTEM NEUROLOGIC-ENDOCRINE-PANCREATIC DISEASE


INFANTILE MULTISYSTEM NEUROLOGIC-ENDOCRINE-PANCREATIC DISEASE Is also known as imnepd

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about INFANTILE MULTISYSTEM NEUROLOGIC-ENDOCRINE-PANCREATIC DISEASE

Medium match NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB; HMSN6B


Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they may show abnormal movements, such as ataxia, dysmetria, and myoclonus. The most severely affected patients are hypotonic at birth and die in infancy (summary by Abrams et al., 2015 and Wan et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of HMSN6, see HMSN6A (OMIM ).

NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB; HMSN6B Is also known as hmsn vib|charcot-marie-tooth disease, type 6b|cmt6b

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB; HMSN6B

Medium 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

Medium match ATELOSTEOGENESIS TYPE I


Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.

ATELOSTEOGENESIS TYPE I Is also known as mecp2 duplication syndrome|aoi|giant cell chondrodysplasia|mental retardation, x-linked, with recurrent respiratory infections|spondylo-humero-femoral dysplasia|atelosteogenesis type 1|mental retardation, x-linked, syndromic, lubs type|ao1

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATELOSTEOGENESIS TYPE I

Medium match KNOBLOCH SYNDROME


Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele.

KNOBLOCH SYNDROME Is also known as retinal detachment and occipital encephalocele|knobloch-layer syndrome|retinal detachment-occipital encephalocele syndrome|kno

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KNOBLOCH SYNDROME

Medium match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20


Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20 Is also known as troyer syndrome|childhood-onset spastic paraparesis-distal muscle wasting syndrome|spastic paraparesis, childhood-onset, with distal muscle wasting|spg20|spastic paraplegia, autosomal recessive, troyer type

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20

Top 5 symptoms//phenotypes associated to Ataxia and Midface retrusion

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Delayed speech and language development Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Ataxia and Midface retrusion. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Failure to thrive

Uncommon Symptoms - Between 30% and 50% cases


Seizures Hypertelorism Absent speech Short stature Dysphagia Hearing impairment Abnormal facial shape Cerebellar atrophy Cerebellar hypoplasia Spasticity Motor delay Constipation Strabismus Pes cavus Anteverted nares Visual impairment Dysmetria Flexion contracture Muscle weakness Exotropia Muscular hypotonia Hypertonia Malar flattening Low-set ears Growth delay Scoliosis Macrocephaly

Rare Symptoms - Less than 30% cases


Depressed nasal bridge Gliosis Drooling Speech apraxia Patent ductus arteriosus Narrow face Lower limb spasticity Stereotypy Anxiety Choreoathetosis Aganglionic megacolon Peripheral neuropathy Chorea Downslanted palpebral fissures Joint hypermobility Joint hyperflexibility Autistic behavior Irritability Muscular hypotonia of the trunk Developmental regression Hyporeflexia Epicanthus Skeletal muscle atrophy Difficulty walking Babinski sign Severe global developmental delay Visual loss Lactic acidosis Bulbous nose Distal amyotrophy Tremor Hyperreflexia Acidosis Nystagmus Ankle contracture Sensorimotor neuropathy Progressive visual loss Peripheral demyelination Tented upper lip vermilion Intellectual disability, mild Hypothyroidism Brachycephaly Respiratory distress Chronic constipation Abnormality of metabolism/homeostasis Intellectual disability, severe Mandibular prognathia Hypermetropia Gait ataxia Cognitive impairment Leukoencephalopathy Intellectual disability, profound Overgrowth Abnormality of the skeletal system Myopia Optic atrophy Hyperactivity Frontal bossing Gait disturbance Behavioral abnormality Macrotia Dystonia Alopecia Mental deterioration Nyctalopia Leukemia Retrognathia Congenital cataract Panic attack Retinal degeneration Thin skin Polymicrogyria Retinal detachment Knee clonus Abnormal hand morphology Vesicoureteral reflux High myopia Encephalocele Pachygyria Abnormality of brain morphology Abnormality of the nares Overbite Abnormality of the hair Mood swings Horizontal nystagmus Upper limb spasticity Glaucoma Suicidal ideation Cerebral atrophy Premature ovarian insufficiency Recurrent respiratory infections Narrow mouth Autism Gastroesophageal reflux Rigidity Respiratory tract infection Poor speech Neurodegeneration Hyperextensible hand joints Aspiration Severe muscular hypotonia Infantile muscular hypotonia Optic nerve hypoplasia Poor head control Myotonia Narrow jaw Hostility Blindness Hydrocephalus Ventriculomegaly Spastic dysarthria Morphea Cataract Infantile axial hypotonia Progressive spasticity Central hypoventilation Bruxism Facial hypotonia Central hypotonia Hypoventilation Poor eye contact Macular degeneration Upper limb muscle weakness Corneal dystrophy Hydronephrosis Peripapillary atrophy Abnormality of the hand Occipital meningocele Bifid ureter Cephalocele Dysarthria Brachydactyly Pectus excavatum Clinodactyly Kyphoscoliosis Slurred speech Spastic paraparesis Hoarse voice Clonus Cerebellar malformation Camptodactyly Spastic paraplegia Abnormality of the foot Spastic gait Genu valgum Hallucinations Paraplegia Lower limb muscle weakness Short foot Sleep disturbance Progressive muscle weakness Abnormal cerebellum morphology Prominent nose Specific learning disability Exudative retinal detachment Abnormal vitreous humor morphology Pyloric stenosis Hammertoe Ectopia lentis Abnormality of the thumb Dysuria Psychosis Premature loss of teeth Cerebellar vermis atrophy Scleroderma Ankle clonus Dextrocardia Spastic diplegia Cortical dysplasia Chorioretinal atrophy Absent septum pellucidum Occipital encephalocele Aplasia cutis congenita Phthisis bulbi Acute lymphoblastic leukemia Meningocele Vitreoretinopathy Calvarial skull defect Large forehead Anomalous pulmonary venous return Aplasia cutis congenita of scalp Total anomalous pulmonary venous return Macular hypoplasia Impaired vibratory sensation Emotional lability Lens luxation Band keratopathy Lymphangioma Pneumonia Atrophy/Degeneration affecting the brainstem Depressivity Cachexia Aggressive behavior Intellectual disability, moderate Feeding difficulties in infancy Attention deficit hyperactivity disorder Broad forehead Ophthalmoplegia Long face Parkinsonism Delayed myelination Open mouth Clumsiness Tall stature External ophthalmoplegia Redundant skin Vomiting Language impairment Mask-like facies Athetosis Myopathic facies Self-mutilation Ileus Impaired social interactions Urethral stenosis Duodenal ulcer Abnormality of creatine metabolism Poor hand-eye coordination Underfolded superior helices Sensorineural hearing impairment Hepatomegaly Neonatal hypotonia Hypoplasia of the corpus callosum Thin upper lip vermilion Sparse hair Syndactyly Facial palsy Facial asymmetry Dental malocclusion Nail dysplasia Small nail Tetraparesis Increased intracranial pressure Hyperostosis Short finger Cutaneous finger syndactyly Sclerotic vertebral endplates Intrauterine growth retardation Nail dystrophy Feeding difficulties Carious teeth Abnormality of skin pigmentation Pancytopenia Fine hair Bone marrow hypocellularity CNS hypomyelination Oral leukoplakia Brain atrophy Amblyopia Hyperkinesis Abnormality of mitochondrial metabolism Facial diplegia Abnormality of the basal ganglia Ptosis Talipes equinovarus Distal muscle weakness Recurrent infections Shock Hypertrophic cardiomyopathy Stroke Hirsutism Hepatic steatosis Highly arched eyebrow Metabolic acidosis Coma Increased serum lactate Intention tremor Broad-based gait Decreased liver function Low anterior hairline Truncal ataxia Tachypnea Prominent forehead Poor suck Hyperglycemia Anteriorly placed anus Increased CSF lactate Stroke-like episode Breathing dysregulation CNS demyelination Microvesicular hepatic steatosis Congenital lactic acidosis Increased hepatocellular lipid droplets Cryptorchidism Myopathy Abnormality of the dentition Short nose Hypoglycemia Hypospadias Hip dislocation Pallor Progressive cerebellar ataxia Decreased fetal movement Postnatal microcephaly Hepatic fibrosis Progressive microcephaly Proximal placement of thumb Steatorrhea Shawl scrotum Exocrine pancreatic insufficiency Pancreatic fibrosis Areflexia Myoclonus Respiratory failure Polyhydramnios Abnormality of the cerebral white matter Cardiomyopathy Distal sensory impairment Sensory neuropathy Tapered finger Polyneuropathy Sensory impairment Narrow forehead Narrow palate Steppage gait Inverted nipples Absent Achilles reflex Cone dysfunction syndrome Pontocerebellar atrophy Trophic changes related to pain Wide nasal bridge Hyperplasia of midface



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