Ataxia, and Frontal bossing

Diseases related with Ataxia and Frontal bossing

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Feeding difficulties
  • Delayed speech and language development
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME; HADDTS

JBTS32 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, intellectual disability, dysmorphic facial features, and postaxial polydactyly. Brain imaging shows cerebellar abnormalities consistent with the molar tooth sign (MTS) (summary by De Mori et al., 2017).For discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 32; JBTS32

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

Other less relevant matches:

Joubert syndrome-26 is an autosomal recessive ciliopathy characterized by global developmental delay associated with cerebellar hypoplasia and variable additional abnormalities, including hypotonia and possibly pituitary abnormalities (summary by Sanders et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 26; JBTS26

Joubert syndrome is characterized by a specific hindbrain formation, hypotonia, cerebellar ataxia, dysregulated breathing patterns, and developmental delay. Ciliary dysfunction is a key factor in the pathogenesis (Coene et al., 2009).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 10; JBTS10

Medium match BRACHYDACTYLY TYPE E

Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short.

BRACHYDACTYLY TYPE E Is also known as bde|brachydactyly, type e

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about BRACHYDACTYLY TYPE E

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

Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by Ortega-Recalde et al., 2015).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR

Oliver-McFarlane syndrome is a rare congenital disorder characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies, including growth hormone (GH ), gonadotropins (see {118860}), and thyroid-stimulating hormone (TSH; see {118850}). Thyroid and GH abnormalities may be present at birth and, if untreated, result in intellectual impairment and profound short stature. Congenital hypogonadism occurs in half of patients, and nearly all have documented hypogonadotropic hypogonadism during puberty, with subsequent reproductive dysfunction. Chorioretinal atrophy is typically noted in the first 5 years of life. Half of reported cases have spinocerebellar involvement, including ataxia, spastic paraplegia, and peripheral neuropathy (summary by Hufnagel et al., 2015).Laurence-Moon syndrome (OMIM ) is an allelic disorder with overlapping features.

OLIVER-MCFARLANE SYNDROME; OMCS Is also known as eyelashes, long, with mental retardation|trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Growth delay
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about OLIVER-MCFARLANE SYNDROME; OMCS

Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.

CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4 Is also known as 2-methylacyl-coa racemase deficiency|amacr deficiency|basd4|alpha-methyl-acyl-coa racemase deficiency|liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Cataract
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4

Top 5 symptoms//phenotypes associated to Ataxia and Frontal bossing

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Gait ataxia Common - Between 50% and 80% cases
Nystagmus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Ataxia and Frontal bossing. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Seizures Generalized hypotonia Hypertelorism Molar tooth sign on MRI Cerebellar vermis hypoplasia Rod-cone dystrophy Mandibular prognathia Micropenis Cerebellar hypoplasia Short stature Cognitive impairment Abnormal cerebellum morphology Delayed speech and language development Abnormal facial shape Deeply set eye Motor delay Cerebellar atrophy

Rare Symptoms - Less than 30% cases

Intention tremor Enlarged cisterna magna Pigmentary retinopathy Hypothyroidism Growth hormone deficiency Growth delay Low-set ears Epicanthus Downslanted palpebral fissures Absent speech Cataract Infra-orbital crease Triangular face Cryptorchidism Spasticity Peripheral axonal neuropathy Tremor Ventriculomegaly Hypogonadism Prominent forehead Cerebral cortical atrophy Macrotia Peripheral neuropathy Recurrent infections Long face Polymicrogyria Dysarthria Polydactyly Feeding difficulties Oculomotor apraxia Tall stature Apraxia Postaxial polydactyly Overgrowth Delayed puberty Pallor Sparse hair Distal muscle weakness Small for gestational age Spastic paraplegia Sclerotic vertebral endplates Paraplegia Retrognathia Inability to walk Retinal degeneration Distal amyotrophy Thick eyebrow Progressive cerebellar ataxia Hypoplasia of penis Sparse scalp hair Hypoglycemia Alopecia Severe short stature Long foot Prominent nasal bridge Arachnodactyly High myopia Lumbar hyperlordosis Sparse eyebrow Large hands Disproportionate tall stature Long fingers Megalencephaly Communicating hydrocephalus Long eyelashes Slender build Metopic synostosis Expressive language delay Long neck Thick corpus callosum Severe expressive language delay Failure to thrive Muscle weakness Depressed nasal bridge Obesity Clumsiness Gynecomastia Joint laxity Hemiparesis Cirrhosis Distal sensory impairment Sensory neuropathy Polyneuropathy Coma Sensory impairment Migraine Type II diabetes mellitus Status epilepticus Cholestasis Unsteady gait Sensorimotor neuropathy Hypergonadotropic hypogonadism Bilateral single transverse palmar creases Paraparesis Spastic paraparesis Apathy Agitation Atrophy/Degeneration affecting the brainstem Iris hypopigmentation Fat malabsorption Nausea Confusion Horizontal nystagmus Central heterochromia Hypogonadotrophic hypogonadism Sensory axonal neuropathy Chorioretinal atrophy Retinal atrophy Progressive gait ataxia Recurrent hypoglycemia Titubation Alopecia areata Choroideremia Long eyebrows Visual impairment Retinopathy Hepatomegaly Optic atrophy Vomiting Headache Depressivity Encephalopathy Photophobia Mental deterioration Irritability Abnormality of the liver Hyperlordosis Proptosis Difficulty walking Gait disturbance Feeding difficulties in infancy Hirsutism Thick vermilion border Intellectual disability, profound Encephalocele Deep philtrum Syndactyly Abnormality of the skeletal system Brachydactyly Midface retrusion Joint hyperflexibility Joint hypermobility Short distal phalanx of finger Round face Short metacarpal Short metatarsal Short clavicles Pseudohypoparathyroidism Ectopic calcification EEG abnormality Facial palsy Moderately short stature Tachypnea Cleft palate Ptosis Anteverted nares Short finger Hyperostosis Increased intracranial pressure Tetraparesis Cleft lip Small nail Cone/cone-rod dystrophy Facial asymmetry Recurrent upper respiratory tract infections Bilateral ptosis Panhypopituitarism Central hypothyroidism Ectopic posterior pituitary Inferior vermis hypoplasia Nail dysplasia Dental malocclusion Wide nasal bridge Upper limb asymmetry Multiple impacted teeth Pes planus Scoliosis Prominent supraorbital ridges Focal impaired awareness seizure External genital hypoplasia Long nose Poor eye contact Microphallus Abnormality of the philtrum Retrocerebellar cyst Disorganization of the anterior cerebellar vermis High palate Hypotelorism Myopia Hydrocephalus Kyphosis Malar flattening Posteriorly rotated ears Upslanted palpebral fissure Cutaneous finger syndactyly High forehead Kyphoscoliosis Scrotal hypoplasia Focal-onset seizure Type E brachydactyly Hyperactivity Straight clavicles Aplasia/Hypoplasia of the distal phalanx of the hallux Strabismus Muscular hypotonia Hearing impairment Elongated superior cerebellar peduncle Large for gestational age Intellectual disability, severe Dilatation Autism Prominent nose Thin upper lip vermilion Neonatal hypotonia Intellectual disability, moderate Attention deficit hyperactivity disorder Short philtrum Neurological speech impairment Poor speech Dysmetria Intellectual disability, mild Biliary tract abnormality


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Macrocephaly and Congenital diaphragmatic hernia, related diseases and genetic alterations Hydrocephalus and Leukodystrophy, related diseases and genetic alterations Ptosis and Narrow mouth, related diseases and genetic alterations Cognitive impairment and Craniosynostosis, related diseases and genetic alterations Strabismus and Craniosynostosis, related diseases and genetic alterations Microcephaly and Kyphosis, related diseases and genetic alterations