Cleft palate, and Parkinsonism

Diseases related with Cleft palate and Parkinsonism

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


Top matches:

Low match X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME


X-linked intellectual disability-psychosis-macroorchidism syndrome is characterised by the association of moderate intellectual deficit with manic-depressive psychosis, pyramidal signs and macroorchidism. It has been described in 10 males. The syndrome is transmitted as an X-linked trait and has been associated with a mutation in the MECP2 gene, localised to segment 28 of the long arm of the X chromosome (Xq28).

X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME Is also known as lindsay-burn syndrome|mental retardation, x-linked 79|mrx79|ppmx|mental retardation, x-linked, with spasticity|mrx16|ppm-x|mental retardation with psychosis, pyramidal signs, and macroorchidism|mental retardation, x-linked 16

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME

Low match LEUKOENCEPHALOPATHY-THALAMUS AND BRAINSTEM ANOMALIES-HIGH LACTATE SYNDROME


Leukoencephalopathy-thalamus and brainstem anomalies-high lactate (LTBL) syndrome is a rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward.

LEUKOENCEPHALOPATHY-THALAMUS AND BRAINSTEM ANOMALIES-HIGH LACTATE SYNDROME Is also known as coxpd12|combined oxidative phosphorylation defect type 12|ltbl|leukoencephalopathy with thalamus and brainstem involvement and high lactate

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about LEUKOENCEPHALOPATHY-THALAMUS AND BRAINSTEM ANOMALIES-HIGH LACTATE SYNDROME

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

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Other less relevant matches:

Low match HYPEREKPLEXIA 4; HKPX4


Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures, and many have inguinal or umbilical hernia. Most patients die in the first months of life due to respiratory failure or other complications (summary by Piard et al., 2018).For a general description and a discussion of genetic heterogeneity of hyperekplexia, see HKPX1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Flexion contracture
  • High palate
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about HYPEREKPLEXIA 4; HKPX4

Low match HEPATOENCEPHALOPATHY DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 1


Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement.

HEPATOENCEPHALOPATHY DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 1 Is also known as hepatoencephalopathy, early fatal progressive|hepatoencephalopathy due to coxpd1

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about HEPATOENCEPHALOPATHY DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 1

Low match CHILDHOOD-ONSET NEMALINE MYOPATHY


Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction.

CHILDHOOD-ONSET NEMALINE MYOPATHY Is also known as mild nemaline myopathy

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Ptosis


SOURCES: ORPHANET MENDELIAN

More info about CHILDHOOD-ONSET NEMALINE MYOPATHY

Low match PLAA-ASSOCIATED NEURODEVELOPMENTAL DISORDER


NDMSBA is an autosomal recessive neurodevelopmental disorder characterized by infantile onset of progressive microcephaly and spasticity and severe global developmental delay resulting in profound mental retardation and severely impaired or absent motor function. More variable features include seizures and optic atrophy. Brain imaging may show myelinating abnormalities and white matter lesions consistent with a leukoencephalopathy, as well as structural anomalies, including thin corpus callosum, gyral abnormalities, and cerebral or cerebellar atrophy. Some patients die in early childhood (summary by Falik Zaccai et al., 2017 and Hall et al., 2017).

PLAA-ASSOCIATED NEURODEVELOPMENTAL DISORDER Is also known as plaand

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PLAA-ASSOCIATED NEURODEVELOPMENTAL DISORDER

Low match WOODHOUSE-SAKATI SYNDROME


Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOODHOUSE-SAKATI SYNDROME

Low match X-LINKED DYSTONIA-PARKINSONISM


X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course.

X-LINKED DYSTONIA-PARKINSONISM Is also known as lubag|lubag syndrome|torsion dystonia-parkinsonism, filipino type|xdp|dyt3|dystonia-parkinsonism, x-linked

Related symptoms:

  • Hearing impairment
  • Tremor
  • Dystonia
  • Myoclonus
  • Difficulty walking


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about X-LINKED DYSTONIA-PARKINSONISM

Low match ATYPICAL PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION


ATYPICAL PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION Is also known as neurodegeneration with brain iron accumulation type 1, atypical form|pkan, atypical form|nbia1, atypical form

Related symptoms:

  • Spasticity
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria
  • Optic atrophy


SOURCES: ORPHANET MENDELIAN

More info about ATYPICAL PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION

Top 5 symptoms//phenotypes associated to Cleft palate and Parkinsonism

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Hyperreflexia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Bradykinesia Spasticity Flexion contracture Rigidity Hypertonia Dystonia Gait disturbance Tremor Intellectual disability Hypoplasia of the corpus callosum Micrognathia Scoliosis Muscular hypotonia of the trunk Ptosis Delayed myelination Microcephaly Feeding difficulties Arthrogryposis multiplex congenita Hearing impairment Clumsiness Psychosis Abnormality of extrapyramidal motor function Abnormal pyramidal sign Delayed speech and language development Intellectual disability, mild Encephalopathy Kyphosis Babinski sign Pes cavus

Rare Symptoms - Less than 30% cases


Hypsarrhythmia Muscle stiffness Cholestasis Limb dystonia Narrow chest Tetraparesis Abnormality of movement Increased serum lactate Dysarthria Insulin-resistant diabetes mellitus Leukoencephalopathy Lactic acidosis Chorea Irritability Developmental regression Spastic tetraparesis Diabetes mellitus Hypergonadotropic hypogonadism Protruding ear Hypothyroidism Acidosis Areflexia Hypertelorism Dysphagia Optic atrophy Sparse scalp hair Camptodactyly Myopathy Downslanted palpebral fissures Prominent nasal bridge Peripheral neuropathy Myoclonus Hypogonadism Cognitive impairment Frequent falls Gait ataxia Progressive spasticity Intellectual disability, severe Difficulty walking Choreoathetosis Small hand Respiratory insufficiency Hepatomegaly Genu valgum Macrocephaly Paraparesis Absent speech Macrotia Pneumonia Spastic paraparesis Cataract Restlessness Nystagmus Failure to thrive Ataxia Exaggerated startle response Focal dystonia Cardiomyopathy Low-set ears Slender build Shuffling gait Motor delay Growth delay Poor coordination Polydactyly Severe global developmental delay Pectus carinatum Cerebral cortical atrophy Hyperhidrosis Apnea Spinal rigidity Smooth philtrum Polyhydramnios Hirsutism Postaxial polydactyly Single transverse palmar crease Intellectual disability, profound Posteriorly rotated ears Progressive microcephaly Tented upper lip vermilion Poor suck Rocker bottom foot Long fingers Bulbar palsy Hypertrichosis Waddling gait Long philtrum Breech presentation Mildly elevated creatine phosphokinase Increased variability in muscle fiber diameter Hypomimic face EMG: myopathic abnormalities Respiratory insufficiency due to muscle weakness Neck muscle weakness Facial diplegia Fetal akinesia sequence Scapular winging Bulbar signs Nemaline bodies Type 1 muscle fiber predominance Poor fine motor coordination Short nose Reduced vital capacity Generalized limb muscle atrophy Increased muscle lipid content Exercise intolerance Fatigable weakness of bulbar muscles Neuromuscular dysphagia Narrow face Long face Ventriculomegaly Limb muscle weakness Edema Cerebellar atrophy Central hypotonia Purpura Central apnea Blepharospasm Decreased serum estradiol Abnormal T-wave Abnormal spermatogenesis Increased thyroid-stimulating hormone level Streak ovary Decreased serum insulin-like growth factor 1 Progressive extrapyramidal movement disorder Hypoplasia of the fallopian tube Progressive alopecia Postural instability Resting tremor Protruding tongue Hand tremor Aspiration pneumonia Torsion dystonia Anodontia Impulsivity Inertia Tongue atrophy Oromandibular dystonia Upper motor neuron dysfunction Emotional lability Obsessive-compulsive behavior Neurological speech impairment Parkinsonism with favorable response to dopaminergic medication Retinopathy Depressivity Blindness Impaired oropharyngeal swallow response Progressive extrapyramidal muscular rigidity Laryngeal stridor Decreased serum testosterone level Heart block Contractures of the large joints High forehead Polyneuropathy Sensory neuropathy Delayed puberty Hypotrichosis Sparse hair Mental deterioration Micropenis Prominent nose Alopecia Abnormality of metabolism/homeostasis Diarrhea Frontal bossing Sensorineural hearing impairment Progressive leukoencephalopathy Triangular face Dental malocclusion Autoimmune thrombocytopenia Hypogonadotrophic hypogonadism Hypoplasia of the uterus Aplasia/Hypoplasia of the eyebrow Flat occiput Sparse eyebrow Premature ovarian insufficiency Hyperlipidemia Hallucinations Decreased testicular size Primary amenorrhea Myocardial infarction Fine hair Bilateral sensorineural hearing impairment Dehydration Amenorrhea Hyporeflexia Absent axillary hair Basal ganglia cysts Brachycephaly Abnormal facial shape Cryptorchidism Anemia Skeletal muscle atrophy Abnormality of the skeletal system Anteverted nares Hydrocephalus Behavioral abnormality Malar flattening Microphthalmia Midface retrusion Pectus excavatum Agenesis of corpus callosum Osteoporosis Autism Short stature Narrow mouth Osteopenia Deeply set eye Conductive hearing impairment Aggressive behavior Broad forehead Congenital cataract Synophrys Distal amyotrophy Short distal phalanx of finger Downturned corners of mouth Neurodegeneration Hypoplasia of the maxilla Nevus Neoplasm Decreased activity of mitochondrial complex IV Hip dysplasia Excessive salivation Short neck Abnormality of the dentition EEG abnormality Spastic paraplegia Paraplegia Tetraplegia Apraxia Spastic tetraplegia Postnatal microcephaly Spastic gait Drooling Facial hypotonia Macroorchidism Bruxism Progressive spastic paraparesis Decreased activity of mitochondrial complex III Mania Juvenile cataract Visual impairment Hypospadias Neonatal hypotonia Elevated hepatic transaminase Abnormality of the cerebral white matter Ophthalmoplegia Hepatic steatosis Ragged-red muscle fibers Macrovesicular hepatic steatosis Decreased activity of mitochondrial complex I Dysplastic corpus callosum Otitis media Cerebral calcification Fulminant hepatic failure Kyphoscoliosis Posterior polar cataract Basilar impression Motor tics Torus palatinus Posterior scalloping of vertebral bodies Absent facial hair Increased size of the mandible Calcification of the auricular cartilage Superiorly displaced ears Respiratory distress Cerebral atrophy Hernia Inguinal hernia Respiratory failure Umbilical hernia Narrow iliac wings Adducted thumb Brisk reflexes Distal arthrogryposis Depressed nasal bridge Epicanthus Intrauterine growth retardation Vomiting Metabolic acidosis Decreased liver function Global brain atrophy Hypokinesia Poor eye contact Progressive encephalopathy Increased CSF lactate Abnormal glucose tolerance Ectopic calcification Thick lower lip vermilion Truncal obesity Abnormal form of the vertebral bodies Thickened skin Gynecomastia Clonus Knee flexion contracture Osteolysis Plagiocephaly Abnormal palate morphology Schizophrenia Self-injurious behavior Melanocytic nevus Bilateral cryptorchidism Metatarsus adductus Anonychia Mixed hearing impairment Recurrent ear infections Ankle clonus Basal ganglia calcification Sparse body hair Congenital hypothyroidism Hip contracture Striae distensae Irregular vertebral endplates Thoracic kyphosis Progressive gait ataxia Broad face Dystrophic fingernails Tics Generalized osteoporosis Bone cyst Violent behavior



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 Pectus excavatum, related diseases and genetic alterations Melanoma and Everted lower lip vermilion, related diseases and genetic alterations Hepatomegaly and Hypotension, related diseases and genetic alterations Fever and Tetralogy of Fallot, related diseases and genetic alterations

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