Frontal bossing, and Gait ataxia

Diseases related with Frontal bossing and Gait ataxia

In the following list you will find some of the most common rare diseases related to Frontal bossing and Gait ataxia 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

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

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

Other less relevant matches:

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

Harel-Yoon syndrome is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. Other more variable features such as optic atrophy may also occur. Laboratory studies in some patients show evidence of mitochondrial dysfunction (summary by Harel et al., 2016).

OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME Is also known as harel-yoon syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME

The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.

2Q23.1 MICRODELETION SYNDROME Is also known as pseudo-angelman syndrome|del(2)(q23.1)|monosomy 2q23.1

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 2Q23.1 MICRODELETION SYNDROME

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

3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.

3Q29 MICRODELETION SYNDROME Is also known as del(3)(q29)|microdeletion 3q29 syndrome|3q subtelomere deletion syndrome|monosomy 3q29|monosomy 3qter|3qter deletion

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about 3Q29 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Frontal bossing and Gait ataxia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Delayed speech and language development Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Cerebellar atrophy Seizures Cognitive impairment Spasticity Long face Prominent nose Low-set ears Abnormal facial shape Mandibular prognathia Motor delay Macrocephaly Short stature Macrotia Cataract Epicanthus Distal amyotrophy Peripheral axonal neuropathy Hyperactivity Autism Thin upper lip vermilion Downslanted palpebral fissures Peripheral neuropathy Abnormal cerebellum morphology Failure to thrive Short nose High palate Myopia Growth delay Cryptorchidism Micrognathia Behavioral abnormality Overgrowth Clinodactyly Hypertelorism Abnormality of the skeletal system Deeply set eye Microcephaly Nystagmus Facial asymmetry Feeding difficulties

Rare Symptoms - Less than 30% cases

High forehead Sandal gap Muscle weakness Gait disturbance Gastroesophageal reflux Aggressive behavior Stereotypy Kyphoscoliosis Posteriorly rotated ears Prominent nasal bridge Upslanted palpebral fissure Dental crowding Joint laxity Strabismus Spastic paraparesis Rod-cone dystrophy Muscular hypotonia Hypogonadism Optic atrophy Pectus excavatum Visual impairment Retrognathia Psychosis Dysarthria Hypoplasia of penis Pigmentary retinopathy Vomiting Malar flattening Thick eyebrow Inability to walk Paraplegia Delayed puberty Spastic paraplegia Small for gestational age Depressivity Encephalopathy Absent speech Difficulty walking Anxiety Cerebellar hypoplasia Dysmetria Esotropia Abnormality of the foot Intention tremor Pectus carinatum Short philtrum Focal impaired awareness seizure Attention deficit hyperactivity disorder Intellectual disability, moderate Hip dysplasia Micropenis Triangular face Prominent forehead Cerebral cortical atrophy Focal-onset seizure Everted lower lip vermilion Midface retrusion Constipation Scoliosis Sleep disturbance Absence seizures Tremor Short foot Clinodactyly of the 5th finger Ventriculomegaly Intellectual disability, severe Skeletal muscle atrophy Wide mouth Anteverted nares Microtia Intellectual disability, mild Synophrys Broad forehead Hypermetropia Brachydactyly Hyperreflexia Flexion contracture Dysphagia Febrile seizures Abnormality of lower lip Widely spaced teeth Autistic behavior Open mouth Highly arched eyebrow Babinski sign Small hand Downturned corners of mouth Low anterior hairline Generalized hirsutism Finger clinodactyly Short chin Short palm Infantile muscular hypotonia Paroxysmal bursts of laughter Tented upper lip vermilion Language impairment Self-injurious behavior Cupped ear Polyphagia Short attention span Macrodontia Bulbous nose Epileptic encephalopathy Protruding ear Hemifacial hypoplasia Astigmatism Scleroderma Pes cavus Abnormality of the dentition Cleft lip Inguinal hernia Patent ductus arteriosus Hypospadias Hernia Microphthalmia Hypertension Pulmonic stenosis Cleft palate Hyperplasia of midface Hyperextensible hand joints Morphea Suicidal ideation Narrow jaw Respiratory tract infection Joint hyperflexibility Knee clonus Narrow face Subvalvular aortic stenosis Broad face Shallow orbits Bipolar affective disorder Nasal speech Horseshoe kidney Aspiration Oral cleft Aortic valve stenosis Anorexia Pulmonary arterial hypertension Single transverse palmar crease Tapered finger Abnormality of skin pigmentation Panic attack Abnormal hand morphology Hydronephrosis Lower limb spasticity Drooling Hoarse voice Clonus Spastic gait Hallucinations Progressive muscle weakness Choreoathetosis Abnormality of the hand Specific learning disability Gliosis Joint hypermobility Lower limb muscle weakness Genu valgum Camptodactyly Slurred speech Emotional lability Abnormality of brain morphology Abnormality of the thumb Abnormality of the nares Overbite Mood swings Upper limb spasticity Speech apraxia Spastic dysarthria Dysuria Impaired vibratory sensation Upper limb muscle weakness Premature loss of teeth Ankle contracture Cerebellar vermis atrophy Ankle clonus Spastic diplegia Hammertoe Postnatal growth retardation Unsteady gait Feeding difficulties in infancy Long foot Proptosis Pes planus Hyperlordosis Arachnodactyly High myopia Lumbar hyperlordosis Tall stature Sparse eyebrow Large hands Disproportionate tall stature Long fingers Megalencephaly Communicating hydrocephalus Hydrocephalus Slender build Metopic synostosis Expressive language delay Long neck Thick corpus callosum Severe expressive language delay Obesity Alopecia Severe short stature Hypothyroidism Hypoglycemia Pallor Sparse hair Kyphosis Disorganization of the anterior cerebellar vermis Retinal degeneration Dilatation Hearing impairment Syndactyly Facial palsy Dental malocclusion Nail dysplasia Small nail Tetraparesis Increased intracranial pressure Hyperostosis Short finger Cutaneous finger syndactyly Sclerotic vertebral endplates Neonatal hypotonia Infra-orbital crease Neurological speech impairment Poor speech Hypotelorism Cerebellar vermis hypoplasia Scrotal hypoplasia Prominent supraorbital ridges External genital hypoplasia Long nose Poor eye contact Enlarged cisterna magna Microphallus Abnormality of the philtrum Retrocerebellar cyst Distal muscle weakness Progressive cerebellar ataxia EEG abnormality Fat malabsorption Type II diabetes mellitus Status epilepticus Hemiparesis Cholestasis Sensorimotor neuropathy Hypergonadotropic hypogonadism Bilateral single transverse palmar creases Paraparesis Apathy Agitation Atrophy/Degeneration affecting the brainstem Iris hypopigmentation Biliary tract abnormality Sensory impairment Cardiomyopathy Delayed skeletal maturation Hypertrophic cardiomyopathy Muscular hypotonia of the trunk Congenital cataract Increased serum lactate Aciduria Optic nerve hypoplasia Abnormality of mitochondrial metabolism Ptosis Fever Brachycephaly Coarse facial features Migraine Coma Growth hormone deficiency Choroideremia Sparse scalp hair Clumsiness Long eyelashes Gynecomastia Horizontal nystagmus Hypogonadotrophic hypogonadism Sensory axonal neuropathy Chorioretinal atrophy Retinal atrophy Progressive gait ataxia Recurrent hypoglycemia Titubation Alopecia areata Long eyebrows Polyneuropathy Central heterochromia Hepatomegaly Headache Photophobia Mental deterioration Irritability Abnormality of the liver Retinopathy Confusion Nausea Cirrhosis Distal sensory impairment Sensory neuropathy Six lumbar vertebrae


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