Ataxia, and Single transverse palmar crease

Diseases related with Ataxia and Single transverse palmar crease

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


Top matches:

Medium match PEROXISOME BIOGENESIS DISORDER 4B; PBD4B


Peroxisome biogenesis disorder-4B (PDB4B) includes the overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), which represent milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders (PBDs). The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX6 gene have cells of complementation group 4 (CG4, equivalent to CG6 and CGC). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 4B; PBD4B

Medium match LAURENCE-MOON SYNDROME


Laurence-Moon syndrome (LMS) is a very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about LAURENCE-MOON SYNDROME

Medium match NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER; NDAGSCW


NDAGSCW is a neurodevelopmental disorder characterized by severely delayed psychomotor development apparent from infancy. Affected individuals have delayed and difficulty walking, intellectual disability, absent speech, and variable additional features, including hip dysplasia, tapering fingers, and seizures. Brain imaging shows decreased cortical white matter, often with decreased cerebellar white matter, thin corpus callosum, and thin brainstem (summary by Lamers et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER; NDAGSCW

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Other less relevant matches:

Medium match PEROXISOME BIOGENESIS DISORDER 3B; PBD3B


The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX12 gene have cells of complementation group 3 (CG3). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 3B; PBD3B

Medium match CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4


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

Medium match X-LINKED INTELLECTUAL DISABILITY, CANTAGREL TYPE


X-linked Mental retardation Cantagrel type is characterised by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, CANTAGREL TYPE

Medium match ALLAN-HERNDON-DUDLEY SYNDROME


Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.

ALLAN-HERNDON-DUDLEY SYNDROME Is also known as x-linked intellectual disability-hypotonia syndrome|t3 resistance|allan-herndon syndrome|triiodothyronine resistance|monocarboxylate transporter 8 deficiency|mct8 deficiency|mental retardation and muscular atrophy|mental retardation, x-linked, with hypoto

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ALLAN-HERNDON-DUDLEY SYNDROME

Medium match MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35

Medium match 3Q29 MICRODELETION SYNDROME


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

Medium match GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18


GPIBD18 is a severe autosomal recessive developmental disorder characterized by severely impaired global development, hypotonia, weakness, ataxia, coarse facial features, and intractable seizures. More variable features may include abnormalities of the hands and feet, inguinal hernia, and feeding difficulties. The disorder is part of a group of similar neurologic disorders resulting from biochemical defects in the glycosylphosphatidylinositol (GPI) biosynthetic pathway (summary by Nguyen et al., 2018).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18

Top 5 symptoms//phenotypes associated to Ataxia and Single transverse palmar crease

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Abnormal facial shape 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 Single transverse palmar crease. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Gait ataxia Clinodactyly Visual impairment Absent speech Spasticity Hearing impairment Brachydactyly Epicanthus Cataract Hepatomegaly Neonatal hypotonia Strabismus Rod-cone dystrophy Optic atrophy Gastroesophageal reflux Bilateral single transverse palmar creases Macrotia Inguinal hernia Failure to thrive Dysarthria Gait disturbance Tapered finger Sensorineural hearing impairment Short nose Cryptorchidism Hernia Clinodactyly of the 5th finger Delayed speech and language development Feeding difficulties Stereotypy Drooling Hypothyroidism

Rare Symptoms - Less than 30% cases


Malar flattening Hypospadias Osteoporosis Wide nasal bridge Status epilepticus Dental crowding Irritability Hyporeflexia Frontal bossing Pectus carinatum Polyneuropathy Thin upper lip vermilion Behavioral abnormality Growth delay Finger clinodactyly Long face Protruding ear Narrow face Pectus excavatum Flexion contracture Scoliosis Central hypothyroidism Long nose Open mouth Hyperactivity Narrow forehead Urinary incontinence Severe global developmental delay Prominent nasal bridge Short philtrum Aggressive behavior Autism Cerebral cortical atrophy Muscular hypotonia Depressivity Short stature Macrocephaly Decreased liver function Unsteady gait Hypermetropia Upslanted palpebral fissure Dystonia Hypoplasia of the corpus callosum Ventriculomegaly Peripheral neuropathy Type II diabetes mellitus Abnormality of the pinna Poor eye contact Hypertelorism Mild microcephaly Retinal dystrophy Gingival overgrowth Highly arched eyebrow Rotary nystagmus Hypoplasia of the musculature Increased thyroid-stimulating hormone level Delayed CNS myelination Prominent antihelix Joint hyperflexibility Abnormal conjugate eye movement Short distal phalanx of finger Stahl ear Underfolded superior helices Arthrogryposis multiplex congenita Coarse facial features Cerebellar atrophy Myopia Intrauterine growth retardation Blindness Six lumbar vertebrae Anemia Central hypotonia Abnormality of the neck CNS hypomyelination Spastic tetraplegia Interphalangeal joint contracture of finger Choreoathetosis Involuntary movements Leukodystrophy Clonus Muscle stiffness Type I diabetes mellitus Intellectual disability, progressive Poor head control Increased nuchal translucency Athetosis Cerebral visual impairment Myopathic facies Hallux valgus Aphasia Bowel incontinence Multiple joint contractures Generalized amyotrophy Biparietal narrowing Hyperactive deep tendon reflexes Deep philtrum Hypoplasia of the zygomatic bone Macroorchidism Long philtrum Nasal speech Subvalvular aortic stenosis Joint laxity Cognitive impairment High palate Hypertension Downslanted palpebral fissures Abnormality of the dentition Increased serum lactate Microphthalmia Patent ductus arteriosus Anorexia Posteriorly rotated ears Anxiety Cleft lip Cleft palate Intellectual disability, moderate Respiratory tract infection Attention deficit hyperactivity disorder Pulmonary arterial hypertension Psychosis Small for gestational age Pulmonic stenosis Prominent nose Everted lower lip vermilion Facial asymmetry Abnormality of skin pigmentation Low-set ears Micrognathia Broad face Polyhydramnios Shallow orbits Bipolar affective disorder Oral cleft Syndactyly Sandal gap Recurrent infections Horseshoe kidney Aspiration Cerebellar hypoplasia Narrow mouth Mandibular prognathia Aortic valve stenosis Spondyloepiphyseal dysplasia Camptodactyly Abnormal cardiac septum morphology Dolichocephaly Toe syndactyly Smooth philtrum Febrile seizures Decreased testicular size High myopia Progressive microcephaly Microretrognathia Cutaneous syndactyly Cerebral calcification Underdeveloped nasal alae Generalized muscle weakness Vomiting Areflexia Dry skin Flat face Abnormal bleeding Depressed nasal ridge Abnormal electroretinogram Steatorrhea Hypocholesterolemia Esodeviation Very long chain fatty acid accumulation Tremor Headache Bruxism Encephalopathy Hypogonadism Photophobia Mental deterioration Abnormality of the liver Retinopathy Confusion Peripheral axonal neuropathy Nausea Cirrhosis Distal sensory impairment Happy demeanor Facial hypotonia Coma Hypoplasia of penis Abnormality of the cerebral white matter Decreased nerve conduction velocity Adrenal insufficiency Ureterocele Renal insufficiency Abnormality of cardiovascular system morphology Obesity Brachycephaly Low-set, posteriorly rotated ears Finger syndactyly Iris coloboma Hand polydactyly Overlapping toe Congenital hepatic fibrosis Displacement of the external urethral meatus Abnormality of the antitragus Abnormality of the skeletal system Talipes equinovarus Pes cavus Difficulty walking Deeply set eye Delayed myelination Hip dysplasia Cerebellar vermis hypoplasia Optic nerve hypoplasia Sensory neuropathy Sensory impairment Tetraplegia Skeletal muscle atrophy Postnatal microcephaly Absence seizures Tented upper lip vermilion Coarse hair Abnormality of the musculature Protruding tongue Shawl scrotum Muscle weakness Ptosis Motor delay Hyperreflexia Intellectual disability, severe Hypsarrhythmia Babinski sign Proptosis Pes planus Abnormality of the nervous system Feeding difficulties in infancy Joint stiffness Camptodactyly of finger Spastic paraplegia Abnormality of the foot Abnormality of movement Paraplegia Inability to walk Tetraparesis Nephrotic syndrome Migraine Iris hypopigmentation Pigmentary retinopathy Intention tremor Hemiparesis Cholestasis Sensorimotor neuropathy Hypergonadotropic hypogonadism Paraparesis Spastic paraparesis Apathy Agitation Atrophy/Degeneration affecting the brainstem Fat malabsorption Generalized-onset seizure Biliary tract abnormality Anteverted nares Constipation EEG abnormality Muscular hypotonia of the trunk Postnatal growth retardation Autistic behavior Poor speech Thin vermilion border Generalized myoclonic seizures Round face Esotropia Short fourth metatarsal



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Cerebral calcification, related diseases and genetic alterations Microphthalmia and Polyhydramnios, related diseases and genetic alterations Intrauterine growth retardation and Short palpebral fissure, related diseases and genetic alterations Melanoma and Azoospermia, related diseases and genetic alterations Dysarthria and Postaxial hand polydactyly, related diseases and genetic alterations

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