Cleft palate, and Polyneuropathy

Diseases related with Cleft palate and Polyneuropathy

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


Top matches:

Medium match NEURALGIC AMYOTROPHY


Neuralgic amyotrophy (NA) is an uncommon disorder of the peripheral nervous system characterized by the sudden onset of extreme pain in the upper extremity followed by rapid multifocal motor weakness and atrophy and a slow recovery in months to years. NA includes both an idiopathic (INA, also known as Parsonage-Turner syndrome) and hereditary (HNA) form.

NEURALGIC AMYOTROPHY Is also known as mononeuritis multiplex with brachial predilection|acute brachial plexus neuritis|immune brachial plexus neuropathy|brachial plexus neuritis|neuralgic shoulder amyotrophy

Related symptoms:

  • Short stature
  • Muscle weakness
  • Cleft palate
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about NEURALGIC AMYOTROPHY

Medium match H SYNDROME


H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

Medium match PERRAULT SYNDROME


Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.

PERRAULT SYNDROME Is also known as ovarian dysgenesis with sensorineural deafness|gonadal dysgenesis, xx type, with deafness|xx gonodal dysgenesis-deafness syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERRAULT SYNDROME

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Other less relevant matches:

Medium match NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB; HMSN6B


Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they may show abnormal movements, such as ataxia, dysmetria, and myoclonus. The most severely affected patients are hypotonic at birth and die in infancy (summary by Abrams et al., 2015 and Wan et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of HMSN6, see HMSN6A (OMIM ).

NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB; HMSN6B Is also known as hmsn vib|charcot-marie-tooth disease, type 6b|cmt6b

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB; HMSN6B

Medium match CORPUS CALLOSUM AGENESIS-NEURONOPATHY SYNDROME


Corpus callosum agenesis-neuronopathy syndrome is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and "autistic-like" features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait.

CORPUS CALLOSUM AGENESIS-NEURONOPATHY SYNDROME Is also known as andermann syndrome|charlevoix disease|polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum|corpus callosum, agenesis of, with neuronopathy

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CORPUS CALLOSUM AGENESIS-NEURONOPATHY SYNDROME

Medium match MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B


Multiple endocrine neoplasia type IIB (MEN2B) is an autosomal dominant hamartoneoplastic syndrome characterized by aggressive medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal neuromas, and thickened corneal nerves. Most affected individuals have characteristic physical features, including full lips, thickened eyelids, high-arched palate, and marfanoid habitus. Other more variable features include skeletal anomalies and gastrointestinal problems (review by Morrison and Nevin, 1996).For a discussion of genetic heterogeneity of multiple endocrine neoplasia (MEN), see MEN1 (OMIM ).

MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B Is also known as men iib|multiple endocrine neoplasia, type iii, formerly|wagenmann-froboese syndrome|men3, formerly|neuromata, mucosal, with endocrine tumors

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B

Medium match DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS


The DOOR syndrome is an acronym for deafness, onychodystrophy, osteodystrophy, and mental retardation. Cantwell (1975) suggested this designation for the disorder, which can also include triphalangeal thumbs, seizures, and abnormal dermatoglyphics. Inheritance is autosomal recessive.See also DDOD syndrome (OMIM ), which shows autosomal dominant inheritance of congenital deafness and onychodystrophy without mental retardation.

DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS Is also known as digitorenocerebral syndrome|eronen syndrome|drc syndrome|door syndrome|brachydactyly due to absence of distal phalanges

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS

Medium 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 MARFAN SYNDROME; MFS


A heritable disorder of fibrous connective tissue, Marfan syndrome shows striking pleiotropism and clinical variability. The cardinal features occur in 3 systems--skeletal, ocular, and cardiovascular (McKusick, 1972; Pyeritz and McKusick, 1979; Pyeritz, 1993). It shares overlapping features with congenital contractural arachnodactyly (OMIM ), which is caused by mutation in the FBN2 gene (OMIM ).Gray and Davies (1996) gave a general review. They published Kaplan-Meier survival curves for a cohort of British Marfan syndrome patients demonstrating greater survivorship in females than in males; a similar result had been reported by Murdoch et al. (1972) and by Silverman et al. (1995). Gray and Davies (1996) also proposed a grading scale for clinical comparison of the Marfan syndrome patients. The authors provided criteria for each grade and suggested uniform use of these scales may facilitate clinicomolecular correlations.

MARFAN SYNDROME; MFS Is also known as marfan syndrome, type i|mfs1

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about MARFAN SYNDROME; MFS

Low match CATARACT-INTELLECTUAL DISABILITY-HYPOGONADISM SYNDROME


This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.

CATARACT-INTELLECTUAL DISABILITY-HYPOGONADISM SYNDROME Is also known as martsolf syndrome|cataract-mental retardation-hypogonadism

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CATARACT-INTELLECTUAL DISABILITY-HYPOGONADISM SYNDROME

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

Symptoms // Phenotype % cases
Peripheral neuropathy Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Flexion contracture Seizures Sensory neuropathy Optic atrophy Ptosis Sensorineural hearing impairment Hypertelorism Intellectual disability, mild Short stature Peripheral axonal neuropathy Hyporeflexia Muscle weakness Pes cavus Visual loss Hypogonadism Myopia Severe sensorineural hearing impairment Microcephaly Pes planus Camptodactyly Pectus carinatum Delayed puberty Nystagmus Primary amenorrhea Delayed speech and language development Sensorimotor neuropathy Abnormal facial shape Spasticity Motor delay Hypergonadotropic hypogonadism Amenorrhea Areflexia Bilateral sensorineural hearing impairment Muscular hypotonia Micropenis Decreased serum testosterone level Abnormality of the skeletal system Joint laxity Pectus excavatum Hyperlordosis Wide nasal bridge Epicanthus Ventriculomegaly Anteverted nares Hyperreflexia Downslanted palpebral fissures Cataract Pain Skeletal muscle atrophy

Rare Symptoms - Less than 30% cases


Dysmetria Coarse facial features Progressive peripheral neuropathy Spastic diplegia Ataxia Hammertoe Abnormal dermatoglyphics High, narrow palate Abnormality of the skin Mental deterioration Recurrent respiratory infections Short phalanx of finger Abnormality of the nervous system Prominent nose Cerebellar hypoplasia Low-set ears Everted lower lip vermilion Cerebellar atrophy Long philtrum High forehead Dysarthria Cognitive impairment Cerebral atrophy Disproportionate tall stature Infantile spasms Hypoplasia of the iris Micrognathia Hypogonadotrophic hypogonadism Psychosis Esotropia Hypoplasia of the maxilla Long face Respiratory tract infection Neonatal hypotonia Brachycephaly Intellectual disability, severe Feeding difficulties Strabismus Myopathy Narrow palate Tremor Exotropia Diarrhea Narrow forehead Congestive heart failure Malar flattening Tapered finger Kyphosis Bulbous nose Abnormality of the cerebral white matter Severe global developmental delay Babinski sign Midface retrusion Dental malocclusion Respiratory distress Talipes equinovarus Edema Frontal bossing Growth delay Failure to thrive Decreased testicular size Alopecia Overgrowth Brachydactyly Abnormal heart morphology Posteriorly rotated ears Sleep apnea Mitral valve prolapse Elbow flexion contracture Cardiomegaly Clinodactyly Low-set, posteriorly rotated ears Hernia Severe short stature Growth hormone deficiency Apnea Diabetes mellitus Respiratory insufficiency Hypothyroidism Proptosis Hypotrichosis Decreased serum estradiol Progressive extrapyramidal movement disorder Hyperlipidemia Knee flexion contracture Purpura Progressive alopecia Hypoplasia of the fallopian tube Hallucinations Choreoathetosis Sparse scalp hair Myocardial infarction Low posterior hairline Fine hair Decreased serum insulin-like growth factor 1 Cardiac arrest Premature ovarian insufficiency Aplasia/Hypoplasia of the eyebrow Anodontia Heart block Insulin-resistant diabetes mellitus Autoimmune thrombocytopenia Clonus Hypoplasia of the uterus Intellectual disability, progressive Streak ovary Flat occiput Short toe Postnatal microcephaly Sparse eyebrow Abnormal spermatogenesis Increased thyroid-stimulating hormone level Abnormal T-wave Hypopnea Arthrogryposis multiplex congenita Abnormality of extrapyramidal motor function Nail dystrophy High myopia Dandy-Walker malformation Renal agenesis Nail dysplasia Misalignment of teeth Furrowed tongue Talipes valgus Downturned corners of mouth Short distal phalanx of finger Wide mouth Small nail Abnormality of the distal phalanx of finger Osteopathia striata Broad fingertip Prominent antitragus Blindness Prominent nipples Multiple mucosal neuromas Ganglioneuromatosis Prominent corneal nerve fibers Inguinal freckling Hypsarrhythmia Abnormal toenail morphology Dehydration Prominent nasal tip Triangular face Abnormality of movement Prominent nasal bridge Sparse hair Protruding ear Abnormality of metabolism/homeostasis Dystonia Gait disturbance Abnormality of the hand Profound sensorineural hearing impairment Cystic renal dysplasia Abnormality of the antihelix Epiphyseal dysplasia Bilateral cryptorchidism Metatarsus adductus Prematurely aged appearance Ulnar deviation of finger Anonychia Triphalangeal thumb Thoracic scoliosis Abnormality of the fingernails Tracheomalacia Lumbar hyperlordosis Broad nasal tip Hypotelorism Rocker bottom foot Striae distensae Slender finger Abnormality of the sternum Reduced subcutaneous adipose tissue Restrictive ventilatory defect Decreased muscle mass Open bite Emphysema Large for gestational age Epiphora Dilatation of the cerebral artery Microspherophakia Cystic medial necrosis Spontaneous pneumothorax Overjet Anisometropia Increased axial length of the globe Incisional hernia Pulmonary artery dilatation Subcutaneous neurofibromas Heart murmur Aortic root aneurysm Megalocornea Medial rotation of the medial malleolus Pneumothorax Protrusio acetabuli Dural ectasia Tricuspid valve prolapse Endocarditis Thoracic aortic aneurysm Flat cornea Overbite Ascending tubular aorta aneurysm Hypoplasia of the musculature Homocystinuria Subarachnoid hemorrhage Low back pain Hypertropia Pulmonary edema Spondylolisthesis Aortic dissection Genu recurvatum Thoracic kyphosis Obstructive sleep apnea Meningocele Arachnoid cyst Mitral annular calcification Inferior oblique muscle overaction Short metacarpal Stroke Abnormal pyramidal sign Retinal detachment Short philtrum Joint hypermobility Congenital cataract Talipes Polymicrogyria Arachnodactyly Dolichocephaly Deeply set eye Chest pain Retrognathia Kyphoscoliosis Gastroesophageal reflux Short palm Microcornea Glaucoma Arrhythmia Abnormality of cardiovascular system morphology Premature osteoarthritis Dilatation Postnatal growth retardation Feeding difficulties in infancy Cryptorchidism Cerebral cortical atrophy Depressed nasal bridge Congenital contracture Aortic aneurysm Ectopia lentis Cardiomyopathy Microphthalmia Redundant skin Back pain Encephalopathy Muscular hypotonia of the trunk Abnormality of the cardiovascular system Intellectual disability, moderate Aortic regurgitation Spontaneous abortion Narrow face Amblyopia Tall stature Dental crowding Decreased body weight Abnormal lung morphology Mitral regurgitation Elevated urinary epinephrine Decreased motor nerve conduction velocity Neuroma Lipoatrophy Communicating hydrocephalus Varicose veins Aspiration pneumonia Abnormal eyebrow morphology Enlarged kidney Exocrine pancreatic insufficiency Episodic fever Polycythemia Scleroderma Microcytic anemia Nasal obstruction Elevated erythrocyte sedimentation rate Increased antibody level in blood Hallux valgus Leukocytosis Hyperglycemia Stridor Psoriasiform dermatitis Lipodystrophy Azoospermia Plagiocephaly Recurrent pharyngitis Skin nodule Type I diabetes mellitus Episcleritis Rod-cone dystrophy Short neck Seborrheic keratosis Retroperitoneal fibrosis Upper eyelid edema Bilateral camptodactyly Cervical lymphadenopathy Stiff skin Snoring Panniculitis Histiocytosis Facial telangiectasia Myelofibrosis Generalized lymphadenopathy Corneal arcus Hyperplasia of the maxilla Broad finger Pancreatic hypoplasia Abnormality of cardiovascular system physiology Chronic rhinitis Reticulocytopenia Osteolysis Aspiration Gait ataxia Acrocyanosis Delayed skeletal maturation Patent ductus arteriosus Splenomegaly Atrial septal defect Hydrocephalus Ventricular septal defect Fever Hepatomegaly Anemia Sprengel anomaly Hyperkeratosis Scapular winging EMG abnormality Round face Sleep disturbance Paresthesia Neurological speech impairment Paralysis Arthralgia Narrow mouth Pneumonia Dyspnea Gynecomastia Full cheeks Hyperpigmentation of the skin Gingival overgrowth Telangiectasia Bronchiectasis Hypertrichosis Hypertriglyceridemia Blue sclerae Epistaxis Epidermal acanthosis Wide intermamillary distance Recurrent fractures Hepatosplenomegaly Flat face Cleft upper lip Ichthyosis Lymphadenopathy Abnormality of the foot Malabsorption Retinopathy Abnormal cardiac septum morphology Abnormality of the kidney Conductive hearing impairment Osteoporosis Ophthalmoplegia Proximal femoral epiphysiolysis EMG: chronic denervation signs Carcinoma Photophobia Constipation Neoplasm Abnormal anterior horn cell morphology Decreased sensory nerve conduction velocity Limb tremor Axonal degeneration/regeneration Diffuse white matter abnormalities Motor polyneuropathy Thick vermilion border Restrictive deficit on pulmonary function testing Aqueductal stenosis Demyelinating peripheral neuropathy Facial diplegia Increased CSF protein Turricephaly Onion bulb formation Partial agenesis of the corpus callosum 2-3 toe syndactyly Hemiplegia/hemiparesis Thick eyebrow Thick lower lip vermilion CNS hypomyelination Thyroid carcinoma Abnormality of the parathyroid gland Nodular goiter Elevated calcitonin Schizencephaly Ganglioneuroma Colonic diverticula Medullary thyroid carcinoma Lisch nodules Parathyroid hyperplasia Pheochromocytoma Achalasia Hemiparesis Neoplasm of the endocrine system Flushing Freckling Neurofibromas Acne Failure to thrive in infancy Goiter Cafe-au-lait spot Subcutaneous nodule Aganglionic megacolon Decreased nerve conduction velocity Paraparesis Infertility Dysphagia Lactic acidosis Pallor Irritability Difficulty walking Polyhydramnios Acidosis Respiratory failure Myoclonus Hypertonia Visual impairment Distal sensory impairment Internuclear ophthalmoplegia Limited extraocular movements Titubation Amelogenesis imperfecta Retinal atrophy Increased circulating gonadotropin level Gonadal dysgenesis Secondary amenorrhea Bilateral ptosis Hyperkinesis Distal amyotrophy Sensory impairment Low anterior hairline Macrotia Abnormality of retinal pigmentation Spastic tetraplegia Tetraplegia Inability to walk Facial asymmetry Limb muscle weakness Craniosynostosis Developmental regression Facial palsy EEG abnormality Agenesis of corpus callosum Progressive visual loss Short nose Trophic changes related to pain Pontocerebellar atrophy Cone dysfunction syndrome Absent Achilles reflex Inverted nipples Atrophy/Degeneration affecting the brainstem Steppage gait Tented upper lip vermilion Peripheral demyelination Slender ulna



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