High palate, and Progressive cerebellar ataxia

Diseases related with High palate and Progressive cerebellar ataxia

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 47; SCA47

MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME Is also known as mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME

Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism).

WRINKLY SKIN SYNDROME Is also known as wrinkled skin syndrome|wss

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about WRINKLY SKIN SYNDROME

Other less relevant matches:

Marinesco-Sjögren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MARINESCO-SJÖGREN SYNDROME

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

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about PERRAULT SYNDROME 5; PRLTS5

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

Distal arthrogryposis with impaired proprioception and touch is an autosomal recessive neurologic disorder characterized by loss of certain mechanosensation modalities resulting in ataxia, difficulty walking, dysmetria, muscle weakness and atrophy, and progressive skeletal contractures. Patients have onset of symptoms in early childhood (summary by Chesler et al., 2016 and Delle Vedove et al., 2016).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Ataxia
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT

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

Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia.'For information on the autosomal forms of hypogonadotropic hypogonadism with or without anosmia, see {147950}.

HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1 Is also known as anosmic hypogonadism|hha|kallmann syndrome 1|dysplasia olfactogenitalis of de morsier|hypogonadotropic hypogonadism and anosmia|kms|kal1

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Cleft palate
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1

Top 5 symptoms//phenotypes associated to High palate and Progressive cerebellar ataxia

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Gait ataxia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with High palate and Progressive cerebellar ataxia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment Global developmental delay Short stature Peripheral neuropathy Motor delay Hyporeflexia Pes cavus Distal sensory impairment Muscle weakness Seizures Delayed speech and language development Areflexia Abnormal facial shape Downslanted palpebral fissures Failure to thrive Myopathic facies Sensory impairment Smooth philtrum Distal muscle weakness Difficulty walking Kyphoscoliosis Myopathy Pes planus Flexion contracture Wide nasal bridge Dysarthria Dysmetria Ptosis

Rare Symptoms - Less than 30% cases

Deeply set eye Epicanthus Cryptorchidism Muscular hypotonia Hypotelorism Kyphosis Microcephaly Nystagmus Strabismus Syndactyly Skeletal muscle atrophy Abnormality of the skeletal system Talipes equinovarus Long philtrum Limb ataxia Impaired vibratory sensation Delayed ability to walk Broad-based gait Infantile muscular hypotonia Unsteady gait Abnormality of the foot Thin upper lip vermilion Hypergonadotropic hypogonadism Sensorineural hearing impairment Feeding difficulties Cognitive impairment Hip dislocation Sensory axonal neuropathy Joint laxity Peripheral axonal neuropathy Cerebellar atrophy Low-set ears Primary amenorrhea Hip dysplasia Elevated serum creatine phosphokinase Cerebellar hypoplasia Small hand Pectus excavatum Growth delay Hypogonadism Distal amyotrophy Long face Sandal gap Inability to walk Spasticity Amenorrhea Abnormality of the metacarpal bones Coxa valga Gonadal dysgenesis External genital hypoplasia Elevated circulating luteinizing hormone level Type I diabetes mellitus Congenital muscular dystrophy Increased serum pyruvate Positive Romberg sign Abnormal heart morphology Cubitus valgus Poor speech Short metatarsal Dysphonia Constipation Upslanted palpebral fissure Triangular face Abnormal cardiac septum morphology Wide nose Rimmed vacuoles Centrally nucleated skeletal muscle fibers Abnormality of mitochondrial metabolism Abnormality of the cerebellar vermis Cerebellar cortical atrophy Metatarsus valgus Aplasia/Hypoplasia involving the skeletal musculature Abnormal aldolase level Brachycephaly Abnormal levels of creatine kinase in blood Failure to thrive in infancy Narrow mouth Macrotia Short philtrum Muscle flaccidity Increased serum lactate Muscle fiber necrosis Autophagic vacuoles Avascular necrosis of the capital femoral epiphysis Thick lower lip vermilion Mild global developmental delay Prominent supraorbital ridges Abnormality of finger Large hands Abnormal lactate dehydrogenase activity Ophthalmoplegia Decreased nerve conduction velocity Long nose Decreased number of peripheral myelinated nerve fibers Bilateral cryptorchidism Abnormality of the eye Delayed puberty Abnormality of eye movement Facial asymmetry Oral cleft Ichthyosis Renal agenesis Decreased testicular size Gynecomastia Hypogonadotrophic hypogonadism Holoprosencephaly Azoospermia Anosmia Unilateral renal agenesis Anodontia Micropenis Sparse pubic hair Hyposmia Abnormal renal morphology Microphallus Testicular atrophy Bimanual synkinesia Bilateral renal agenesis Eunuchoid habitus Alobar holoprosencephaly Decreased circulating luteinizing hormone level Olfactory lobe agenesis Hypothalamic gonadotropin-releasing hormone deficiency Decreased circulating follicle stimulating hormone level Leydig cell insensitivity to gonadotropin Cleft lip Cleft palate Onion bulb formation Impaired tactile sensation Syringomyelia Chronic constipation Demyelinating peripheral neuropathy Respiratory insufficiency Camptodactyly Arthrogryposis multiplex congenita Arachnodactyly Sensory neuropathy Joint contracture of the hand Poor head control Narrow nasal bridge Distal arthrogryposis Impaired proprioception Sensory ataxia Respiratory distress Hypotrophy of the small hand muscles Hyperkeratosis Facial palsy Paralysis Split hand Foot dorsiflexor weakness Abnormality of the hand Congenital contracture Hammertoe Steppage gait Decreased motor nerve conduction velocity Nemaline bodies Distal lower limb amyotrophy Increased connective tissue Ulnar claw Muscle stiffness Narrow forehead Sensorimotor neuropathy Umbilical hernia Poor coordination Mitochondrial myopathy Prolactin excess Thick hair Speech articulation difficulties Enlarged interhemispheric fissure Hypertelorism Intrauterine growth retardation Abnormality of the dentition Dilatation Hernia Inguinal hernia Osteopenia Visual impairment Multiple lipomas Postnatal growth retardation Sparse hair Carious teeth Joint hypermobility Delayed eruption of teeth Broad nasal tip Dandy-Walker malformation Microdontia High myopia Status epilepticus Cerebellar vermis hypoplasia Wide anterior fontanel Progressive microcephaly Hyperthyroidism Increased variability in muscle fiber diameter Wormian bones Mandibular prognathia Cerebral visual impairment Incoordination Cerebellar vermis atrophy Dilated fourth ventricle Generalized-onset seizure Micrognathia Epileptic encephalopathy Tremor Chorea Intellectual disability, mild Depressivity Delayed skeletal maturation Tapered finger Myalgia Gowers sign Anxiety Pallor Toe syndactyly Retinopathy Falls Clinodactyly Encephalopathy Pigmentary retinopathy Intention tremor Frequent falls Truncal ataxia Schizophrenia Dysdiadochokinesis Congenital hip dislocation Coxa vara Short thumb Rigidity Small, conical teeth High nonceruloplasmin-bound serum copper Neonatal wrinkled skin of hands and feet Cataract Brachydactyly Optic atrophy Intellectual disability, severe Hypertonia Cerebral atrophy Recurrent infections Severe short stature Cerebral cortical atrophy Diplopia Intellectual disability, moderate Multiple plantar creases Pectus carinatum Neurological speech impairment Muscular dystrophy Congenital cataract Synophrys Short palm Dyskinesia Microcornea Short metacarpal Decreased antibody level in blood Specific learning disability Hypertrichosis Progressive muscle weakness Excessive skin wrinkling on dorsum of hands and fingers Fragmented elastic fibers in the dermis Scapular winging Recurrent sinopulmonary infections Cutis laxa Slurred speech Nasal speech Lipodystrophy Emphysema Decreased muscle mass Delayed cranial suture closure Slender long bone Fragile nails Premature skin wrinkling Generalized joint laxity Deep palmar crease Delayed closure of the anterior fontanelle Hypoplasia of the musculature Slender long bones with narrow diaphyses Excessive wrinkled skin Deep plantar creases Short nail Abnormal isoelectric focusing of serum transferrin Palmoplantar cutis laxa Premature rupture of membranes Prominent nasolabial fold Prominent veins on trunk Abnormality of the intrinsic pathway Abnormality of the cheek Thick cerebral cortex Atrial septal dilatation Multiple palmar creases Total anosmia


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