Cleft palate, and Gait ataxia

Diseases related with Cleft palate and Gait ataxia

In the following list you will find some of the most common rare diseases related to Cleft palate and Gait ataxia that can help you solving undiagnosed cases.


Top matches:

Medium match MEHMO SYNDROME


MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.

MEHMO SYNDROME Is also known as mental retardation, x-linked, syndromic 25|mental retardation, x-linked, syndromic, borck type|x-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome|mrxs25|mrxsbrk|mrxs20|mental retardation, x-linked, syndromic 2

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MEHMO SYNDROME

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

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Other less relevant matches:

Low match ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS


Andersen-Tawil syndrome is an autosomal dominant multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, and distinctive dysmorphic facial or skeletal features. Hypoplastic kidney and valvular heart disease have also been reported. The disorder shows marked intrafamilial variability and incomplete penetrance (summary by Davies et al., 2005).

ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS Is also known as ats|andersen syndrome|long qt syndrome 7|periodic paralysis, potassium-sensitive cardiodysrhythmic type|lqt7|andersen-tawil syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS

Low match INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME


Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

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 SPINOCEREBELLAR ATAXIA 47; SCA47


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 47; SCA47

Low match PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME


Yuan-Harel-Lupski syndrome is a complex neurodevelopmental disorder characterized by global developmental delay and early-onset peripheral neuropathy. The disorder comprises features of both demyelinating Charcot-Marie-Tooth disease type 1A (CMT1A ), which results from duplication of the PMP22 gene on 17p12, and Potocki-Lupski syndrome (PTLS ), which results from duplication of a slightly proximal region on 17p11.2 that includes the RAI1 gene. These 2 loci are about 2.5 Mb apart. The resultant YUHAL phenotype may be more severe in comparison to the individual contributions of each gene, with particularly early onset of peripheral neuropathy and features of both central and peripheral nervous system involvement (summary by Yuan et al., 2015).

PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME Is also known as trisomy 17p11.2-p12|dup(17)(p11.2p12)|trisomy 17p11.2p12|yuan-harel-lupski syndrome|17p11.2p12 microduplication syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME

Low match AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2E


Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2E Is also known as cmt2e|charcot-marie-tooth neuropathy, type 2e

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Muscle weakness
  • Ptosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2E

Low match NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE; NEDMIAL


NEDMIAL is a neurodevelopmental disorder characterized by severely delayed psychomotor development and hypotonia apparent from early infancy, resulting in feeding difficulties, ataxic gait or inability to walk, minimal or absent speech development, and severe intellectual disability, often with behavioral abnormalities, such as hand-flapping. Additional common features may include sleep disorder, nonspecific dysmorphic facial features, and joint hyperlaxity (summary by Lessel et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE; NEDMIAL

Top 5 symptoms//phenotypes associated to Cleft palate and Gait ataxia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cleft palate and Gait ataxia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Ataxia Short stature Microcephaly Micrognathia Macrotia Downslanted palpebral fissures Scoliosis Tapered finger Delayed speech and language development Autism Low-set ears Aggressive behavior Ptosis Areflexia Failure to thrive Strabismus Clinodactyly Peripheral neuropathy Thin upper lip vermilion Cataract Cryptorchidism Feeding difficulties Hypospadias Long face Inability to walk Motor delay Hearing impairment Joint laxity

Rare Symptoms - Less than 30% cases


Chorea Short philtrum Epicanthus Pectus excavatum Depressivity Microphthalmia Behavioral abnormality Abnormality of the dentition Gait disturbance Macrocephaly Pulmonic stenosis Cognitive impairment Prominent nasal bridge Broad forehead Facial asymmetry Hypoplasia of the maxilla Skeletal muscle atrophy Flexion contracture Pes cavus Brachycephaly Narrow mouth Deeply set eye Synophrys Distal amyotrophy Thick lower lip vermilion Triangular face Small hand Everted lower lip vermilion Toe syndactyly Tetraparesis Paralysis Syndactyly Malar flattening Respiratory distress Abnormality of the skeletal system Wide nasal bridge Muscle weakness Broad face Distal sensory impairment Clinodactyly of the 5th finger Myopathy Hypogonadism Small for gestational age Attention deficit hyperactivity disorder Cleft lip 2-3 toe syndactyly Difficulty walking Hyperactivity Diabetes mellitus Babinski sign Downturned corners of mouth Scaphocephaly Absent speech Long philtrum Hypertonia Intellectual disability, severe Hypoplasia of the corpus callosum Ventriculomegaly Poor speech Spasticity Delayed ability to walk Hypotelorism Myopia Micropenis Developmental regression Ulnar claw Agenesis of corpus callosum Plagiocephaly Abnormal palate morphology Schizophrenia Self-injurious behavior Melanocytic nevus Bilateral cryptorchidism Metatarsus adductus Anonychia Truncal obesity Ankle clonus Increased connective tissue Mixed hearing impairment Spastic paraparesis Distal lower limb amyotrophy Basal ganglia calcification Involuntary movements Sparse body hair Bruxism Congenital hypothyroidism Nemaline bodies Decreased motor nerve conduction velocity Midface retrusion Hip contracture Osteolysis Paraparesis Knee flexion contracture Otitis media Abnormal pyramidal sign Congenital cataract Conductive hearing impairment Cerebellar atrophy Narrow chest Genu valgum Dystonia Hypotrophy of the small hand muscles Osteopenia Short distal phalanx of finger Hypothyroidism Neurodegeneration Nevus Hip dysplasia Protruding ear Cerebral calcification Bradykinesia Cerebral atrophy Pes planus Striae distensae Abnormal form of the vertebral bodies Thickened skin Gynecomastia Osteoporosis Clonus Joint hypermobility Delayed myelination Hypergonadotropic hypogonadism Sparse scalp hair Onion bulb formation Restlessness Chronic constipation Kyphosis Epileptic encephalopathy Generalized-onset seizure Foot dorsiflexor weakness Split hand Narrow forehead Diplopia Distal muscle weakness Cerebral visual impairment Facial palsy Hyperkeratosis Hyporeflexia Incoordination Demyelinating peripheral neuropathy Cerebellar vermis atrophy Progressive cerebellar ataxia Dilated fourth ventricle Abnormal heart morphology Constipation Upslanted palpebral fissure Abnormal cardiac septum morphology Abnormality of the foot Smooth philtrum Unsteady gait Syringomyelia Wide nose Sensory impairment Broad-based gait Decreased nerve conduction velocity Failure to thrive in infancy Abnormality of the hand Dysmetria Steppage gait Posterior polar cataract Impaired vibratory sensation Insulin-resistant diabetes mellitus Irregular vertebral endplates Poor coordination Decreased number of peripheral myelinated nerve fibers Progressive gait ataxia Dystrophic fingernails Tics Generalized osteoporosis Bone cyst Recurrent ear infections Ectopic calcification Narrow iliac wings Abnormal glucose tolerance Absent axillary hair Congenital contracture Basilar impression Motor tics Torus palatinus Posterior scalloping of vertebral bodies Absent facial hair Increased size of the mandible Calcification of the auricular cartilage Hammertoe Superiorly displaced ears Prominent supraorbital ridges Large hands Visual impairment Dysarthria Encephalopathy Thoracic kyphosis Short phalanx of finger Intellectual disability, mild Hernia Pancreatitis Widely spaced teeth Drooling Agitation External genital hypoplasia Depressed nasal tip Large earlobe Male hypogonadism Abdominal obesity Birth length less than 3rd percentile Tall chin Hypertension Frontal bossing Short nose Patent ductus arteriosus Progressive microcephaly Oral cleft Dental crowding Pulmonary arterial hypertension Psychosis Prominent nose Single transverse palmar crease Abnormality of skin pigmentation Joint hyperflexibility Inguinal hernia Pectus carinatum Respiratory tract infection Intellectual disability, moderate Anxiety Gastroesophageal reflux Posteriorly rotated ears Spastic tetraparesis Lower limb spasticity Anorexia Hyperreflexia Intrauterine growth retardation Ventricular septal defect Retrognathia Astigmatism Rhizomelia Coxa valga Accelerated skeletal maturation Scrotal hypoplasia Metaphyseal widening Obstructive sleep apnea Broad femoral neck Growth delay Nystagmus Muscular hypotonia Talipes equinovarus Open mouth Thick vermilion border Hypoplasia of penis Sloping forehead Growth hormone deficiency Round face Full cheeks Broad nasal tip Lactic acidosis Obesity Delayed puberty Severe global developmental delay Muscular hypotonia of the trunk Hypoglycemia EEG abnormality Acidosis Stereotypy Aortic valve stenosis Hydrocephalus Abnormal heart valve morphology Oligodontia Ventricular arrhythmia Growth abnormality Short metatarsal Hypokalemia Myotonia Preauricular pit Loss of consciousness High pitched voice Hyperkalemia Prolonged QT interval Agenesis of permanent teeth Long nose Slender long bone Hyperthyroidism Ventricular tachycardia Antegonial notching of mandible Anteverted nares Anemia Neoplasm Prominent U wave Prominent frontal sinuses Bidirectional ventricular ectopy Periodic hyperkalemic paralysis Periodic paralysis Short mandibular rami Periodic hypokalemic paresis Clinodactyly of the 5th toe Toe clinodactyly Delayed eruption of permanent teeth Persistence of primary teeth Bicuspid aortic valve Scapular winging Aspiration Delayed skeletal maturation Narrow face Horseshoe kidney Sandal gap Nasal speech Bipolar affective disorder Shallow orbits Subvalvular aortic stenosis Six lumbar vertebrae Hypertelorism Pain Brachydactyly Fever Congestive heart failure Arrhythmia Blepharophimosis Short chin Coarctation of aorta Cardiac arrest Decreased body weight Hypoplasia of dental enamel Palpitations Short palpebral fissure Renal hypoplasia Specific learning disability Tachycardia Short metacarpal Syncope Delayed eruption of teeth Short foot Short palm Bulbous nose Low frustration tolerance



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Hypothyroidism, related diseases and genetic alterations Delayed speech and language development and Heterotopia, related diseases and genetic alterations Tremor and Heterotopia, related diseases and genetic alterations Visual impairment and Hypoglycemia, related diseases and genetic alterations Spasticity and Talipes equinovarus, related diseases and genetic alterations

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