Abnormal facial shape, and Dysmetria

Diseases related with Abnormal facial shape and Dysmetria

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


Top matches:

Low match GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15


GPIBD15 is an autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Nguyen et al., 2017).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15 Is also known as developmental delay, epilepsy, cerebellar atrophy, and osteopenia

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15

Low match SPINOCEREBELLAR ATAXIA 47; SCA47


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 47; SCA47

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low 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

Low match CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2


Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011).For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (OMIM ).

CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2 Is also known as cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2

Low match GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2


Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual 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
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2

Low match X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME


X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.

X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME Is also known as oligophrenin-1 syndrome|ophn1 syndrome|mental retardation, x-linked 60, formerly|mrx60, formerly

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME

Low match HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY DUE TO TECPR2 MUTATION


Hereditary sensory and autonomic neuropathy due to TECPR2 mutation is a rare genetic peripheral neuropathy characterized by early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastroesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face.

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY DUE TO TECPR2 MUTATION Is also known as spg49|autosomal recessive spastic paraplegia type 49|hsan due to tecpr2 mutation

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY DUE TO TECPR2 MUTATION

Low match PERRAULT SYNDROME


Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.

PERRAULT SYNDROME Is also known as ovarian dysgenesis with sensorineural deafness|gonadal dysgenesis, xx type, with deafness|xx gonodal dysgenesis-deafness syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERRAULT SYNDROME

Low match NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY


Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established.

NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY Is also known as beta-hydroxyisobutyryl coa deacylase deficiency|valine metabolic defect|methacrylic aciduria|hibch deficiency|methacrylic acid toxicity

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Dysmetria

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Cerebellar hypoplasia

Uncommon Symptoms - Between 30% and 50% cases


Gait ataxia

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Delayed speech and language development

Common Symptoms - More than 50% cases


Cerebellar atrophy

Uncommon Symptoms - Between 30% and 50% cases


Dysarthria

Common Symptoms - More than 50% cases


Spasticity

Uncommon Symptoms - Between 30% and 50% cases


Nystagmus Cognitive impairment Visual impairment Strabismus Cerebral atrophy Absent speech Narrow forehead Microcephaly Hearing impairment Scoliosis High palate Motor delay Optic atrophy Tremor

Rare Symptoms - Less than 30% cases


Dystonia Ptosis Intellectual disability, severe Hypoplasia of the corpus callosum Encephalopathy Hyperkinesis Sensorineural hearing impairment Small hand Cerebral visual impairment Ventriculomegaly Feeding difficulties Cryptorchidism Muscular hypotonia Esotropia Titubation Macrocephaly Brain atrophy Hyporeflexia Micropenis Macrotia Osteoporosis Truncal ataxia Intention tremor Hypertelorism Developmental regression Hyperreflexia Wide nasal bridge Myopia Prominent forehead Hyperactivity Abnormal cerebellum morphology Poor speech Short neck Inability to walk Generalized-onset seizure Areflexia Rod-cone dystrophy Talipes equinovarus Ophthalmoplegia Decreased activity of the pyruvate dehydrogenase complex Mental deterioration Hypomimic face Peripheral neuropathy Central apnea Intellectual disability, mild Pes cavus Abnormality of the nervous system Paraplegia Broad neck Gastroesophageal reflux Poor eye contact Enlarged cisterna magna Microphallus Abnormality of the philtrum Retrocerebellar cyst Infra-orbital crease Disorganization of the anterior cerebellar vermis Recurrent respiratory infections Brachycephaly Apnea Mild short stature Respiratory tract infection Spastic paraplegia Infertility Full cheeks Round face Dental crowding Spastic gait Aspiration Low anterior hairline Delayed puberty Progressive encephalopathy Peripheral axonal neuropathy Metabolic acidosis Hypertonia Agenesis of corpus callosum Myoclonus Acidosis Muscular hypotonia of the trunk Lethargy Neurodegeneration Tetraplegia Blindness Increased serum lactate Aciduria Tetralogy of Fallot Spastic tetraplegia Acute encephalopathy Abnormal vertebral morphology Aminoaciduria Abnormality of the vertebral column Vomiting Edema Sensory neuropathy Gonadal dysgenesis Polyneuropathy Amenorrhea Primary amenorrhea Sensorimotor neuropathy Bilateral ptosis Hammertoe Spastic diplegia Secondary amenorrhea Severe sensorineural hearing impairment Epicanthus Increased circulating gonadotropin level Retinal atrophy Amelogenesis imperfecta Decreased serum testosterone level External genital hypoplasia Progressive peripheral neuropathy Limited extraocular movements Internuclear ophthalmoplegia Long nose Arachnodactyly Focal impaired awareness seizure Hypermetropia Chorea Epileptic encephalopathy Diplopia Incoordination Cerebellar vermis atrophy Dilated fourth ventricle Midface retrusion Amblyopia Tapered finger Leukoencephalopathy Abnormality of mitochondrial metabolism Facial diplegia Abnormality of the basal ganglia Kyphosis Coarse facial features Abnormal pyramidal sign Short palm Progressive cerebellar ataxia Toe syndactyly Short foot Osteopenia Dysphagia Facial palsy Generalized myoclonic seizures Choreoathetosis Loss of speech Corpus callosum atrophy Anteverted nares EEG abnormality Clinodactyly Unsteady gait Hip dysplasia Apraxia Status epilepticus Infantile muscular hypotonia Brisk reflexes Low-set ears Syndactyly Hirsutism Heterotopia Prominent supraorbital ridges Attention deficit hyperactivity disorder Cerebral cortical atrophy Autism Mandibular prognathia Thin upper lip vermilion Deeply set eye Neonatal hypotonia Intellectual disability, moderate Short philtrum Frontal bossing Neurological speech impairment Long face Triangular face Prominent nose Focal-onset seizure Hypotelorism Cerebellar vermis hypoplasia Scrotal hypoplasia Dilatation Minimal change glomerulonephritis Intellectual disability, progressive Atrophy of the dentate nucleus Lissencephaly Dysdiadochokinesis Global brain atrophy Cortical dysplasia Thoracic scoliosis Thoracic kyphosis Abnormality of the neck Aplasia of the inferior half of the cerebellar vermis Focal segmental glomerulosclerosis Growth delay Micrognathia Intrauterine growth retardation Proteinuria Stage 5 chronic kidney disease Polymicrogyria Nephrotic syndrome Glomerulosclerosis Encephalomalacia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Intellectual disability, profound, related diseases and genetic alterations Tremor and Short palpebral fissure, related diseases and genetic alterations Skeletal muscle atrophy and Carious teeth, related diseases and genetic alterations Peripheral neuropathy and Sparse hair, related diseases and genetic alterations Cataract and Tetralogy of Fallot, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more