Ataxia, and Depressed nasal bridge

Diseases related with Ataxia and Depressed nasal bridge

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


Top matches:

Medium match JOUBERT SYNDROME 32; JBTS32


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

Medium match JOUBERT SYNDROME 35; JBTS35


Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Abnormal facial shape
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 35; JBTS35

Medium match AHDC1-RELATED INTELLECTUAL DISABILITY-OBSTRUCTIVE SLEEP APNEA-MILD DYSMORPHISM SYNDROME


AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome is a rare, syndromic intellectual disability characterized by hypotonia, developmetal delay, absent or severly delayed speech development, intellectual disability, obstructive sleep apnea, mild dysmorphic facial features and behavioral abnormalities. Epilepsy, ataxia and nystagmus have also been reported.

AHDC1-RELATED INTELLECTUAL DISABILITY-OBSTRUCTIVE SLEEP APNEA-MILD DYSMORPHISM SYNDROME Is also known as mrd25|xia-gibbs syndrome|mental retardation, autosomal dominant 25

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AHDC1-RELATED INTELLECTUAL DISABILITY-OBSTRUCTIVE SLEEP APNEA-MILD DYSMORPHISM SYNDROME

Mendelian

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

Learn more

Other less relevant matches:

Medium match OROFACIODIGITAL SYNDROME XVI; OFD16


OROFACIODIGITAL SYNDROME XVI; OFD16 Is also known as oral-facial-digital syndrome, type xvi|ofds xvi

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Muscular hypotonia
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME XVI; OFD16

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 56; MRD56


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 56; MRD56

Medium match ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO


Ornithine transcarbamylase deficiency is an X-linked inborn error of metabolism of the urea cycle which causes hyperammonemia. The disorder is treatable with supplemental dietary arginine and low protein diet.Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: OTC deficiency, carbamyl phosphate synthetase deficiency (OMIM ), argininosuccinate synthetase deficiency, or citrullinemia (OMIM ), argininosuccinate lyase deficiency (OMIM ), and arginase deficiency (OMIM ).

ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Is also known as ornithine carbamoyltransferase deficiency|otc deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO

Medium match PONTOCEREBELLAR HYPOPLASIA TYPE 3


Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia (see this term) with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3.

PONTOCEREBELLAR HYPOPLASIA TYPE 3 Is also known as pch without dyskinesia|cerebellar atrophy with progressive microcephaly|clam|pch with optic atrophy|pch3

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 3

Medium match JABERI-ELAHI SYNDROME; JABELS


JABELS is an autosomal recessive neurodevelopmental disorder characterized by developmental delay and intellectual disability with additional variable features. Patients have onset of symptoms in infancy, but the severity is highly variable. Some patients have social interaction and learn to walk but have an ataxic gait and abnormal movements, such as tremor or dystonia, whereas others do not achieve any motor control and are unable to speak. Additional features may include retinal anomalies, visual impairment, microcephaly, abnormal foot or hand posturing, and kyphoscoliosis; some patients have dysmorphic facial features or seizures. Brain imaging typically shows cerebellar atrophy and hypoplasia of the corpus callosum (summary by Jaberi et al., 2016 and Bertoli-Avella et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JABERI-ELAHI SYNDROME; JABELS

Medium match GM1 GANGLIOSIDOSIS TYPE 2


GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age.

GM1 GANGLIOSIDOSIS TYPE 2 Is also known as late-infantile gm1 gangliosidosis|gangliosidosis, generalized gm1, type ii|juvenile gm1 gangliosidosis|gangliosidosis, generalized gm1, type 2|gangliosidosis, generalized gm1, juvenile type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about GM1 GANGLIOSIDOSIS TYPE 2

Medium match CEDNIK SYNDROME


CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.

CEDNIK SYNDROME Is also known as cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome|cednik syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CEDNIK SYNDROME

Top 5 symptoms//phenotypes associated to Ataxia and Depressed nasal bridge

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

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Ataxia and Depressed nasal bridge. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape Spasticity Hypoplasia of the corpus callosum Optic atrophy Failure to thrive Anteverted nares Microcephaly Postaxial polydactyly Apnea Cerebral atrophy Visual impairment Epicanthus Hypertelorism Thin upper lip vermilion Polydactyly Molar tooth sign on MRI Inability to walk Oculomotor apraxia Apraxia Scoliosis

Rare Symptoms - Less than 30% cases


Intellectual disability, severe Ventriculomegaly High palate Feeding difficulties Long philtrum Absent speech Protruding ear Clumsiness Paraparesis Pontocerebellar atrophy Encephalopathy Peripheral neuropathy Edema Muscular hypotonia Stroke Agenesis of corpus callosum Kyphosis Abnormality of the dentition Short stature Hearing impairment Hyperreflexia Talipes equinovarus Cerebellar atrophy Cerebellar hypoplasia Macrotia Poor head control Motor delay Progressive microcephaly Upslanted palpebral fissure Ptosis Cerebellar vermis hypoplasia Downslanted palpebral fissures Laryngomalacia Delayed myelination Blindness Polymicrogyria Kyphoscoliosis Joint stiffness Distal muscle weakness Pectus carinatum Talipes Dysmetria Joint hypermobility Dandy-Walker malformation Narrow forehead Generalized-onset seizure Gait ataxia Fine hair Choreoathetosis Broad-based gait Abnormal autonomic nervous system physiology Polyneuropathy Sparse eyelashes Brittle hair Sparse eyebrow Hand clenching Diffuse palmoplantar keratoderma Sensorineural hearing impairment Palmoplantar keratoderma Short chin Elbow flexion contracture Hypoplasia of the brainstem Long palpebral fissure Thoracic scoliosis Progressive encephalopathy Abnormality of vision Hypoplasia of the pons Cataract Intellectual disability, progressive Cortical dysplasia Hyporeflexia Delayed speech and language development Pachygyria Myopia Tremor Depressed nasal ridge Dystonia Nephrotic syndrome Muscle weakness Short nose Long face Hypertension Pain Developmental stagnation Decreased body weight Generalized myoclonic seizures Spastic tetraplegia Abnormality of the face Coxa valga Spastic paraparesis Brisk reflexes Loss of speech Areflexia Abnormality of the spleen Hypogonadism Visceromegaly Psychomotor deterioration Congestive heart failure Loss of ability to walk Wide nasal bridge Vacuolated lymphocytes Decerebrate rigidity Progressive psychomotor deterioration Lumbar kyphosis Sea-blue histiocytosis Perisylvian polymicrogyria Generalized muscle weakness Ichthyosis Posteriorly rotated ears Decreased beta-galactosidase activity Fever Abnormality of eye movement Dolichocephaly Severe global developmental delay Gait disturbance Renal insufficiency Abnormality of peripheral nerve conduction Babinski sign Prominent forehead Abnormal corpus callosum morphology Prominent nasal bridge Hepatosplenomegaly Rigidity Abnormality of the eye Developmental regression Abnormality of the liver Platyspondyly Neurodegeneration Palmoplantar hyperkeratosis Proteinuria Tetraplegia Episodic vomiting Hypsarrhythmia Inguinal hernia Cortical gyral simplification Tracheomalacia Obstructive sleep apnea Snoring Retrocerebellar cyst Uplifted earlobe Cognitive impairment Ventricular septal defect Hernia Retrognathia Esotropia Retinopathy Intestinal malrotation Short palpebral fissure Heterotopia Hamartoma Teratoma Hamartoma of tongue Sacrococcygeal teratoma Hydrocephalus Hypothyroidism Sleep apnea Broad forehead Attention deficit hyperactivity disorder Hydronephrosis Nystagmus Dysarthria Macrocephaly Frontal bossing Intellectual disability, mild Abnormal cerebellum morphology Tall stature Large for gestational age Elongated superior cerebellar peduncle Rod-cone dystrophy Telecanthus Behavioral abnormality Scarring Nyctalopia Highly arched eyebrow Progressive visual loss Recurrent urinary tract infections Multicystic kidney dysplasia Cone/cone-rod dystrophy Micrognathia Strabismus Respiratory distress Hypoglycemia Generalized tonic-clonic seizures Underdeveloped nasal alae Hyperglutaminemia Alkalosis Episodic ataxia Cerebral edema Wide nasal base Paranoia Oroticaciduria Respiratory alkalosis Hypoargininemia Protein avoidance Episodic ammonia intoxication Hyperammonemia Low plasma citrulline Flexion contracture Brachycephaly Proptosis Neonatal hypotonia Muscular hypotonia of the trunk Downturned corners of mouth Dyskinesia High, narrow palate Full cheeks Acute hepatic failure Pancreatitis Open mouth Hypospadias Postnatal microcephaly Bradycardia Hyperbilirubinemia Impulsivity Inverted nipples Ganglioneuroblastoma Growth delay Vomiting Headache Abnormality of cardiovascular system morphology Abnormal heart morphology Thick lower lip vermilion Carcinoma Mental deterioration Irritability Lethargy Smooth philtrum Confusion Hepatic failure Coma Gliosis Aciduria Optic disc hypoplasia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Tall stature, related diseases and genetic alterations Congestive heart failure and Amenorrhea, related diseases and genetic alterations Fever and Irritability, related diseases and genetic alterations Myopathy and Flat face, related diseases and genetic alterations Sensorineural hearing impairment and Azoospermia, related diseases and genetic alterations Tremor and Intestinal malrotation, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more