Ataxia, and Craniosynostosis

Diseases related with Ataxia and Craniosynostosis

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


Top matches:

Low match JOUBERT SYNDROME 2; JBTS2


Joubert syndrome is a genetically heterogeneous autosomal recessive disorder characterized by a specific hindbrain malformation, which is referred to as the 'molar tooth sign' (MTS) on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities. The complex brainstem malformation consists of cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (Maria et al., 1997). Additional features sometimes associated with Joubert syndrome include retinal anomalies, polydactyly, hepatic fibrosis, and renal disease. These related disorders are often referred to as 'cerebellooculorenal syndromes' (CORSs) (Chance et al., 1999; Satran et al., 1999).

JOUBERT SYNDROME 2; JBTS2 Is also known as cors2|cerebellooculorenal syndrome 2

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME 2; JBTS2

Low match ACROCEPHALOPOLYDACTYLOUS DYSPLASIA


Acrocephalopolydactylous dysplasia, or Elejalde syndrome, is a lethal multiple congenital disorder characterized by increased birth weight, globular body with thick skin, organomegaly, and fibrosis in multiple tissues (summary by Phadke et al., 2011).

ACROCEPHALOPOLYDACTYLOUS DYSPLASIA Is also known as elejalde syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ACROCEPHALOPOLYDACTYLOUS DYSPLASIA

Low match SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9 Is also known as mzsds|mainzer-saldino syndrome|renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia|conorenal syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9

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Other less relevant matches:

Low match ADENYLOSUCCINATE LYASE DEFICIENCY


Adenylosuccinate lyase deficiency (ADSL deficiency) is a disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features.

ADENYLOSUCCINATE LYASE DEFICIENCY Is also known as adenylosuccinate lyase deficiency|adenylosuccinase deficiency|adsl deficiency

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ADENYLOSUCCINATE LYASE DEFICIENCY

Low match MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR


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

Low match PERMANENT NEONATAL DIABETES MELLITUS


Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.

PERMANENT NEONATAL DIABETES MELLITUS Is also known as monogenic diabetes of infancy|pndm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about PERMANENT NEONATAL DIABETES MELLITUS

Low match JOUBERT SYNDROME 21; JBTS21


Joubert syndrome is an autosomal recessive congenital condition characterized by a unique brainstem and cerebellar malformation comprising cerebellar vermis hypoplasia and/or dysplasia, elongated superior cerebellar peduncles, and deepened interpeduncular fossa, which together are recognized as the 'molar tooth sign' on brain MRI. The most common clinical features include delayed psychomotor development, hypotonia, abnormal respiratory patterns in the neonatal period, oculomotor apraxia, and cerebellar ataxia. Additional features may include retinal degeneration, cystic kidney, liver fibrosis, and polydactyly. It is caused by ciliary defects and is part of a spectrum of disorders known as 'ciliopathies' (summary by Akizu et al., 2014).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
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 21; JBTS21

Low match HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME; HADDTS


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

Low match AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY


Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency is a rare, hereditary ataxia characterized by an early onset symptomatic generalized epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability.

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY Is also known as scar23|spinocerebellar ataxia autosomal recessive type 23

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY

Low 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

Top 5 symptoms//phenotypes associated to Ataxia and Craniosynostosis

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Apraxia Polydactyly Abnormal facial shape Frontal bossing Hypertelorism Gait ataxia High palate Hepatic fibrosis Postaxial polydactyly Low-set ears Cerebellar hypoplasia Strabismus Prominent metopic ridge Elongated superior cerebellar peduncle Renal cyst Nephronophthisis Molar tooth sign on MRI Oculomotor apraxia Upslanted palpebral fissure Renal dysplasia Abnormal cerebellum morphology Cerebellar atrophy Delayed speech and language development Macrocephaly Retinopathy Feeding difficulties Muscular hypotonia Depressed nasal bridge

Rare Symptoms - Less than 30% cases


Retinal dystrophy Long face Polymicrogyria Hearing impairment Motor delay Renal insufficiency Epicanthus Hepatomegaly Brachydactyly Myopia Short neck Visual impairment Wide mouth Posteriorly rotated ears Short nose Prominent forehead Hydrocephalus High forehead Ventriculomegaly Downslanted palpebral fissures Retinal degeneration Smooth philtrum Pulmonary hypoplasia Cerebellar vermis hypoplasia Short ribs Inability to walk Brachycephaly Deeply set eye Dandy-Walker malformation Postaxial hand polydactyly Encephalocele Failure to thrive Microcephaly Tall stature Hypoplasia of the brainstem Absent speech Hypoplasia of the corpus callosum Acute kidney injury Large hands Metopic synostosis Accessory oral frenulum Macrotia Cognitive impairment Difficulty walking Prominent nasal bridge Mandibular prognathia Hypointensity of cerebral white matter on MRI Scoliosis Proptosis Hyperlordosis Cerebral cortical atrophy Kyphoscoliosis Malar flattening Joint laxity Kyphosis Pes planus Inappropriate laughter Brisk reflexes Happy demeanor Severe global developmental delay Skeletal muscle atrophy Anteverted nares Hypertonia Long philtrum Cerebral atrophy Encephalopathy Myoclonus Hyperactivity Autism Thin upper lip vermilion Aggressive behavior Developmental regression Generalized-onset seizure Cerebral hypomyelination Hypsarrhythmia Postnatal microcephaly Stereotypy CNS hypomyelination Impulsivity Flat occiput Opisthotonus Poor eye contact Cerebellar vermis atrophy Epileptic spasms Self-mutilation Short attention span Arachnodactyly Slender build Triangular face Tachypnea Pancreatic hypoplasia Neonatal insulin-dependent diabetes mellitus Contractures of the joints of the lower limbs Intellectual disability, mild Reduced pancreatic beta cells Sensorineural hearing impairment Ptosis Dyspnea Apnea Dysarthria Heterotopia Large fontanelles Decreased liver function Anophthalmia Microalbuminuria Occipital encephalocele Bell-shaped thorax Abnormal pattern of respiration Hydranencephaly Hyperechogenic kidneys Wide cranial sutures Prominent supraorbital ridges Posterior fossa cyst Thick lower lip vermilion Cerebellar malformation Single naris Retrognathia Hypotelorism Short philtrum Hypovolemia Abnormality of the upper urinary tract Overgrowth Intellectual disability, severe High myopia Lumbar hyperlordosis Sparse eyebrow Disproportionate tall stature Long fingers Megalencephaly Long foot Communicating hydrocephalus Narrow mouth Expressive language delay Long neck Thick corpus callosum Severe expressive language delay Intrauterine growth retardation Abnormal heart morphology Autoimmune antibody positivity Weight loss Generalized tonic-clonic seizures Arthrogryposis multiplex congenita Peripheral axonal neuropathy Downturned corners of mouth Growth delay Generalized myoclonic seizures Dehydration Bilateral ptosis Hyperglycemia Neurodevelopmental delay Glycosuria Renal tubular dysfunction Ketonuria Coma Bifid uvula Absence of renal corticomedullary differentiation Renal hypoplasia Edema Abnormality of cardiovascular system morphology Recurrent respiratory infections Respiratory failure Polyhydramnios Rigidity Abnormality of the pinna Anal atresia Micromelia Hypopigmentation of the skin Ascites Specific learning disability Limb undergrowth Depressed nasal ridge Optic atrophy Omphalocele Abnormality of the face Thickened skin Hydrops fetalis Muscle stiffness Multicystic kidney dysplasia Hemivertebrae Redundant skin Premature graying of hair Macular dystrophy Cystic hygroma Generalized hyperpigmentation Protuberant abdomen Tremor Spasticity Broad neck Impaired smooth pursuit Blindness Microphthalmia Neonatal hypotonia Camptodactyly Coloboma Dolichocephaly Abnormality of the foot Esotropia Abnormal electroretinogram Patent foramen ovale Chorioretinal coloboma External genital hypoplasia Congenital blindness Optic nerve coloboma Noncommunicating hydrocephalus Central apnea Agenesis of cerebellar vermis Abnormal renal physiology Abnormal corpus callosum morphology Rotary nystagmus Abnormal saccadic eye movements Abnormality of ocular smooth pursuit Hypoplastic male external genitalia Episodic tachypnea Dysgenesis of the cerebellar vermis Brainstem dysplasia Neonatal breathing dysregulation Thickened superior cerebellar peduncle Enlarged fossa interpeduncularis Enlarged kidney Polysplenia Short proximal phalanx of finger Cone-shaped epiphysis Delayed eruption of teeth Macroglossia Microdontia Narrow forehead Sparse scalp hair Cholestasis Recurrent urinary tract infections Short phalanx of finger Exotropia Wide anterior fontanel Cutis laxa Widely spaced teeth Trigonocephaly Short femoral neck Short distal phalanx of finger Short thorax Abnormal retinal morphology Scaphocephaly Recurrent lower respiratory tract infections Cone-shaped epiphyses of the phalanges of the hand Thoracic dysplasia Cholangitis Congenital hepatic fibrosis Pancreatic cysts Hypoplasia of the capital femoral epiphysis Pyelonephritis Frontal upsweep of hair Aplasia of the middle phalanx of the hand Nephropathy Abnormality of skin pigmentation Rib fusion Cataract Cystic renal dysplasia Oxycephaly Subcortical cerebral atrophy Lymphangioma Abnormality of the cerebellar vermis Pancreatic fibrosis Cerebral cortical hemiatrophy Aplasia/Hypoplasia of the macula Hypoplasia of the small intestine Hypoplastic colon Extrapulmonary sequestrum Short stature Micrognathia Anemia Oral cleft Wide nasal bridge Respiratory insufficiency Hernia Depressivity Visual loss Pneumonia Rod-cone dystrophy Skeletal dysplasia Umbilical hernia Cleft lip Low-set, posteriorly rotated ears Abnormality of the kidney Scarring Stage 5 chronic kidney disease Large for gestational age



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Long face, related diseases and genetic alterations Feeding difficulties and Telecanthus, related diseases and genetic alterations Myopia and Skeletal dysplasia, related diseases and genetic alterations Epicanthus and Pectus carinatum, related diseases and genetic alterations Cleft palate and Flexion contracture, related diseases and genetic alterations Anemia and Azoospermia, related diseases and genetic alterations

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