Cleft palate, and Progressive cerebellar ataxia

Diseases related with Cleft palate and Progressive cerebellar ataxia

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


Top matches:

Medium match MYHRE SYNDROME


Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients.

MYHRE SYNDROME Is also known as laryngotracheal stenosis, arthropathy, prognathism, and short stature|laps syndrome|growth-mental deficiency syndrome of myhre|facial dysmorphism-intellectual disability-short stature-hearing loss syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MYHRE SYNDROME

Medium 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

Medium match MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME


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

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Other less relevant matches:

Medium match WRINKLY SKIN 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

Medium match MARINESCO-SJÖGREN SYNDROME


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

Low match MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA


Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14; MDDGA14


MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14; MDDGA14 Is also known as walker-warburg syndrome or muscle-eye-brain disease, gmppb-related

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14; MDDGA14

Low match TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER


TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER Is also known as you-hoover-fong syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER

Low match HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1


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

Low match JOUBERT SYNDROME 26; JBTS26


Joubert syndrome-26 is an autosomal recessive ciliopathy characterized by global developmental delay associated with cerebellar hypoplasia and variable additional abnormalities, including hypotonia and possibly pituitary abnormalities (summary by Sanders et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 26; JBTS26

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

Symptoms // Phenotype % cases
Ataxia Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Kyphoscoliosis Motor delay High palate Microcephaly Spasticity Recurrent infections Cerebellar hypoplasia Muscle weakness Syndactyly Seizures Ptosis Delayed speech and language development Nystagmus Abnormal facial shape Sensorineural hearing impairment Hypertelorism Growth delay Gait ataxia Cleft lip Mandibular prognathia Limb ataxia Dysarthria Dysmetria Myopathy Pectus excavatum Elevated serum creatine phosphokinase Inguinal hernia Muscular hypotonia Epicanthus Kyphosis Intellectual disability, severe Hypogonadism Pectus carinatum Low-set ears Cryptorchidism Abnormality of the skeletal system Cerebellar atrophy Clinodactyly Cataract Strabismus Brachydactyly

Rare Symptoms - Less than 30% cases


Cerebral visual impairment Pes planus Talipes equinovarus Abnormality of the dentition Hernia Osteopenia Umbilical hernia Joint laxity Craniofacial hyperostosis Failure to thrive Hip dislocation Smooth philtrum Thickened calvaria Frontal bossing External genital hypoplasia Infantile muscular hypotonia Feeding difficulties Flexion contracture Malar flattening Neurological speech impairment Inability to walk Intrauterine growth retardation Pes cavus Macrocephaly Delayed skeletal maturation Hyporeflexia Depressivity Intellectual disability, mild Short neck Chorea Midface retrusion Small hand Toe syndactyly Myopathic facies Wide nasal bridge Visual impairment Behavioral abnormality Micropenis Cognitive impairment Absent speech Anxiety Postnatal growth retardation Oral cleft Respiratory tract infection Amenorrhea Decreased antibody level in blood Hip dysplasia Skeletal muscle atrophy Hypertrichosis Short palm Thick eyebrow Optic atrophy Sparse hair Deeply set eye Hypertonia Areflexia Recurrent respiratory infections Severe short stature Muscular dystrophy Hypermetropia Specific learning disability Cerebral atrophy Progressive muscle weakness Sensorimotor neuropathy Short thumb Highly arched eyebrow Retinal degeneration Short metacarpal Confusion Genu valgum Microcornea Autophagic vacuoles Neurodegeneration Pancytopenia Tall stature Bowing of the long bones Congenital cataract Synophrys Progressive neurologic deterioration Depressed nasal ridge Psychosis Type II diabetes mellitus Dyskinesia Optic disc pallor Peripheral demyelination Otitis media Dental malocclusion Delayed myelination Abnormality of the cerebral white matter Gliosis Macroglossia Abnormality of the foot Ectopic posterior pituitary Corneal opacity Abnormal aldolase level Myopia Congenital muscular dystrophy Hyperreflexia Rimmed vacuoles Hepatomegaly Depressed nasal bridge Centrally nucleated skeletal muscle fibers Pain Aplasia/Hypoplasia involving the skeletal musculature Cubitus valgus Abnormality of finger Mild global developmental delay Abnormal lactate dehydrogenase activity Cerebellar cortical atrophy Metatarsus valgus Abnormal levels of creatine kinase in blood Abnormality of the cerebellar vermis Muscle flaccidity Muscle fiber necrosis Gait disturbance Short metatarsal Broad forehead Sandal gap Hypergonadotropic hypogonadism Avascular necrosis of the capital femoral epiphysis Mental deterioration Muscle stiffness Coxa valga Arthritis Hepatosplenomegaly Type I diabetes mellitus Abnormality of the metacarpal bones Amblyopia Dysphonia Coarse facial features Skeletal dysplasia Macrotia Prominent forehead Babinski sign Immunodeficiency Splenomegaly Hydrocephalus Ventriculomegaly Growth hormone deficiency Gingival overgrowth Blue sclerae Hypotelorism Decreased testicular size Renal agenesis Ichthyosis Facial asymmetry Abnormality of eye movement Delayed puberty Abnormality of the eye Ankyloglossia Rotary nystagmus Abnormality of movement Hypogonadotrophic hypogonadism Hypoglycosylation of alpha-dystroglycan Hypoplasia of the pons Oligohydramnios Spinocerebellar tract disease in lower limbs Flattened moderately deformed vertebrae Synovial hypertrophy Progressive joint destruction Abnormality of dental structure Antineutrophil antibody positivity Abnormality of joint mobility Gynecomastia Holoprosencephaly Hypoplastic inferior ilia Eunuchoid habitus Apraxia Anteverted nares Total anosmia Leydig cell insensitivity to gonadotropin Decreased circulating follicle stimulating hormone level Hypothalamic gonadotropin-releasing hormone deficiency Olfactory lobe agenesis Oculomotor apraxia Decreased circulating luteinizing hormone level Alobar holoprosencephaly Bilateral renal agenesis Tachypnea Bimanual synkinesia Testicular atrophy Microphallus Abnormal renal morphology Hyposmia Sparse pubic hair Anodontia Bilateral cryptorchidism Unilateral renal agenesis Anosmia Azoospermia Abnormality of the ilium Decreased pulmonary function Hallucinations Flat occiput Bronchitis Abnormality of the sternum Femoral bowing Neurodevelopmental delay Cone/cone-rod dystrophy Recurrent upper respiratory tract infections Open bite Bilateral ptosis Molar tooth sign on MRI Bowing of the legs Heart murmur Aseptic necrosis Chronic otitis media Prominent supraorbital ridges Hypothyroidism Increased intracranial pressure Widely spaced teeth Recurrent bacterial infections Narrow palate Low anterior hairline Panhypopituitarism Central hypothyroidism Spastic gait Limb dystonia Severe sensorineural hearing impairment Generalized abnormality of skin Vacuolated lymphocytes Increased hepatic glycogen content Increased vertebral height Spondylolysis Oligosacchariduria Synostosis of joints Cerebral dysmyelination Retinal thinning Long ear Abnormality of the gingiva Cranial hyperostosis Thoracolumbar kyphosis Patellar dislocation Abnormal echocardiogram Synovitis Abnormal cornea morphology Abnormality of the rib cage Spondylolisthesis Abnormality of the helix Reduced ejection fraction Hydrocele testis Dysostosis multiplex Impaired smooth pursuit Delusions Bowel incontinence Wormian bones Intellectual disability, moderate 2-3 toe syndactyly Pericarditis Arthropathy Keratoconus Abnormal joint morphology High hypermetropia Vertebral fusion Short finger Pericardial effusion Blurred vision Overlapping toe Submucous cleft hard palate Skeletal muscle hypertrophy Radial deviation of finger Oral-pharyngeal dysphagia Stridor Cone-shaped epiphysis Abnormality of the voice Precocious puberty Short long bone Narrow palpebral fissure Wheezing Irregular vertebral endplates Aortic valve stenosis Unilateral cleft lip Abnormality of the pubic bone Constrictive pericarditis Pear-shaped nose Large iliac wings Esophageal stenosis Pseudopapilledema Stiff skin Abnormality of the penis Abnormal lip morphology Abnormality of the menstrual cycle Oligomenorrhea Epispadias Femoral hernia Peptic ulcer Constrictive median neuropathy Restrictive cardiomyopathy Broad ribs Tracheal stenosis Hypoplastic iliac wing Chronic constipation EMG abnormality Short toe Laryngotracheal stenosis Abnormal heart morphology Autistic behavior Camptodactyly Conductive hearing impairment Thin upper lip vermilion Autism Narrow mouth Respiratory failure Hyperactivity Constipation Patent ductus arteriosus Blepharophimosis Hypospadias Obesity Abnormality of cardiovascular system morphology Microphthalmia Cardiomyopathy Respiratory distress Respiratory insufficiency Ventricular septal defect Hypertension Joint stiffness Scarring Abnormality of epiphysis morphology Limitation of joint mobility Thickened skin Abnormality of the metaphysis Abnormal lung morphology Choanal atresia Short palpebral fissure Fine hair Abnormality of the ribs Coarctation of aorta Abnormality of the cardiovascular system Bifid uvula Abnormal cardiac septum morphology Hypoplasia of the maxilla Thin vermilion border Astigmatism Platyspondyly Small for gestational age Prominent nasal bridge Short philtrum Cough Microtia Generalized muscle hypertrophy Enlarged vertebral pedicles Rigidity Lipodystrophy Delayed closure of the anterior fontanelle Deep palmar crease Generalized joint laxity Premature skin wrinkling Fragile nails Slender long bone Delayed cranial suture closure Decreased muscle mass Emphysema Nasal speech Hypoplasia of the musculature Slurred speech Cutis laxa Scapular winging Coxa vara Congenital hip dislocation Progressive microcephaly Wide anterior fontanel Cerebellar vermis hypoplasia Status epilepticus Recurrent sinopulmonary infections Excessive wrinkled skin Microdontia Multiple palmar creases Cerebral cortical atrophy Peripheral neuropathy Neonatal wrinkled skin of hands and feet High nonceruloplasmin-bound serum copper Small, conical teeth Excessive skin wrinkling on dorsum of hands and fingers Multiple plantar creases Fragmented elastic fibers in the dermis Slender long bones with narrow diaphyses Atrial septal dilatation Deep plantar creases Thick cerebral cortex Abnormality of the cheek Abnormality of the intrinsic pathway Prominent veins on trunk Prominent nasolabial fold Premature rupture of membranes Palmoplantar cutis laxa Abnormal isoelectric focusing of serum transferrin Short nail High myopia Dandy-Walker malformation Gingival cleft Micrognathia Distal amyotrophy Falls Long face Retinopathy Distal muscle weakness Pallor Myalgia Difficulty walking Tremor Dilated fourth ventricle Sensory impairment Cerebellar vermis atrophy Incoordination Diplopia Narrow forehead Generalized-onset seizure Epileptic encephalopathy Tapered finger Encephalopathy Hypoplasia of eyelid Distal sensory impairment Pigmentary retinopathy Broad nasal tip Prolactin excess Delayed eruption of teeth Joint hypermobility Carious teeth Dilatation Long philtrum Downslanted palpebral fissures Enlarged interhemispheric fissure Speech articulation difficulties Thick hair Mitochondrial myopathy Intention tremor Poor coordination Hyperthyroidism Multiple lipomas Increased variability in muscle fiber diameter Gowers sign Dysdiadochokinesis Schizophrenia Truncal ataxia Frequent falls Primary amenorrhea Inferior vermis hypoplasia



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