Cleft palate, and Dementia
Diseases related with Cleft palate and Dementia
In the following list you will find some of the most common rare diseases related to Cleft palate and Dementia that can help you solving undiagnosed cases.
Top matches:
Low match POPLITEAL PTERYGIUM SYNDROME; PPS
POPLITEAL PTERYGIUM SYNDROME; PPS Is also known as cleft lip/palate, paramedian mucous cysts of the lower lip, popliteal pterygium, digital and genital anomalies|faciogenitopopliteal syndrome
Related symptoms:
- Cleft palate
- Cryptorchidism
- Flexion contracture
- Abnormality of the skeletal system
- Talipes equinovarus
More info about POPLITEAL PTERYGIUM SYNDROME; PPS
Low match ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME
Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.
ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME Is also known as ichthyosis follicularis-atrichia-photophobia syndrome|ifap syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cle
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
SOURCES: ORPHANET OMIM MENDELIAN
More info about ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROMELow match VELOCARDIOFACIAL SYNDROME
VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about VELOCARDIOFACIAL SYNDROME
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Other less relevant matches:
Low match DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROME
Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.
Related symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Hearing impairment
- Scoliosis
SOURCES: MESH ORPHANET OMIM MENDELIAN
More info about DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROMELow match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44; MRT44
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Cleft palate
- Cognitive impairment
More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44; MRT44
Low match HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4
Related symptoms:
- Short stature
- Growth delay
- Cleft palate
- Cognitive impairment
- Anemia
More info about HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4
Low match KERATODERMA HEREDITARIUM MUTILANS
Keratoderma hereditarium mutilans is a rare, diffuse, mutilating, hereditary palmoplantar keratoderma disorder characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated.
KERATODERMA HEREDITARIUM MUTILANS Is also known as khm|mutilating keratoderma|deafness, congenital, with keratopachydermia and constrictions of fingers and toes|vohwinkel syndrome|mutilating keratoderma of vohwinkel|mutilating keratoderma plus deafness|keratoderma hereditarium mutilans|ppk mutilans and de
Related symptoms:
- Hearing impairment
- Microcephaly
- Sensorineural hearing impairment
- Cleft palate
- Cognitive impairment
SOURCES: OMIM ORPHANET MESH MENDELIAN
More info about KERATODERMA HEREDITARIUM MUTILANSLow match CENTRAL CORE DISEASE OF MUSCLE; CCD
Typical central core disease is a relatively mild congenital myopathy, usually characterized by motor developmental delay and signs of mild proximal weakness most pronounced in the hip girdle musculature. Orthopedic complications, particularly congenital dislocation of the hips and scoliosis, are common, and CCD patients are at risk of having malignant hyperthermia (MHS1 ). Onset of CCD is usually in childhood, although adult onset has also been reported, illustrating phenotypic variability (Jungbluth et al., 2009). Some patients can present in utero or at birth with severe congenital myopathy (Bharucha-Goebel et al., 2013).
CENTRAL CORE DISEASE OF MUSCLE; CCD Is also known as cco
Related symptoms:
- Seizures
- Global developmental delay
- Generalized hypotonia
- Scoliosis
- Muscle weakness
More info about CENTRAL CORE DISEASE OF MUSCLE; CCD
Low match ISOLATED KLIPPEL-FEIL SYNDROME
Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.
ISOLATED KLIPPEL-FEIL SYNDROME Is also known as congenital cervical vertebral fusion|klippel-feil sequence|congenital fused cervical segments|klippel-feil malformation|cervical vertebral fusion, autosomal recessive|kfs, autosomal recessive
Related symptoms:
- Hearing impairment
- Scoliosis
- Hypertelorism
- Sensorineural hearing impairment
- Cleft palate
SOURCES: OMIM ORPHANET MENDELIAN
More info about ISOLATED KLIPPEL-FEIL SYNDROMELow match AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE
AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE Is also known as arcl2, classic type|arcl2, debrÉ type|autosomal recessive cutis laxa type 2, debrÉ type
Related symptoms:
- Seizures
- Global developmental delay
- Short stature
- Hypertelorism
- Failure to thrive
More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE
Top 5 symptoms//phenotypes associated to Cleft palate and Dementia
| Symptoms // Phenotype | % cases |
|---|---|
| Global developmental delay | Common - Between 50% and 80% cases |
| Cognitive impairment | Common - Between 50% and 80% cases |
| Seizures | Uncommon - Between 30% and 50% cases |
| Short stature | Uncommon - Between 30% and 50% cases |
| Hearing impairment | Uncommon - Between 30% and 50% cases |
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Other less frequent symptoms
Patients with Cleft palate and Dementia. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Scoliosis Bifid uvula Intrauterine growth retardation Intellectual disability Cleft lip Inguinal hernia Submucous cleft hard palate High palate Polydactyly Feeding difficulties Microcephaly Mental deterioration Abnormality of the kidney Hypertelorism Sensorineural hearing impairment Recurrent infections Immunodeficiency Cleft upper lip Flexion contracture
Rare Symptoms - Less than 30% cases
Renal dysplasia Syndactyly Abnormality of cardiovascular system morphology Abnormality of the hand Abnormality of the skeletal system Talipes equinovarus Psoriasiform dermatitis Congenital hip dislocation Papule Umbilical hernia Cryptorchidism Hyperkeratosis Postnatal growth retardation Unilateral renal agenesis Hip dislocation Anal atresia Ventricular septal defect Multicystic kidney dysplasia Abnormality of the ribs Anteverted nares Conductive hearing impairment Long philtrum Specific learning disability Abnormality of the nail Abnormality of the pinna Kyphoscoliosis Palmoplantar keratoderma Postaxial polydactyly Pes planus Ichthyosis Talipes Hypotrichosis Short neck Low posterior hairline Cerebellar hypoplasia Anemia Generalized hypotonia Cataract Velopharyngeal insufficiency Myopathic facies Motor delay Bifid scrotum Growth delay Failure to thrive Alopecia Facial asymmetry Abnormality of the vertebral column Muscular hypotonia Low-set ears Fever Delayed speech and language development Hernia Hypoplasia of the corpus callosum Intellectual disability, severe Kyphosis Dilatation Spina bifida Neutropenia Nephropathy Hypogonadotrophic hypogonadism Osteolysis Chronic kidney disease Hematuria Depressed nasal bridge Externally rotated hips Preaxial polydactyly Gout Mutism Focal segmental glomerulosclerosis Hyperuricemia Thin vermilion border Flat occiput Elevated serum creatinine Abnormally large globe Hypertension Thickened skin Proteinuria Renal cyst Dysphagia Achalasia Perimembranous ventricular septal defect Conotruncal defect Giant platelets Retinal vascular tortuosity Paranoia Duodenal stenosis Impaired T cell function Right aortic arch Mood swings Platybasia Interrupted aortic arch Aplasia of the thymus Graves disease Aplasia of the uterus Seborrheic dermatitis Juvenile rheumatoid arthritis Pulmonary artery atresia Abnormality of the endocrine system Echolalia Myelomeningocele Truncus arteriosus Psychotic episodes Arteria lusoria Bulbar signs Intellectual disability, mild Hypoplastic scapulae Mild global developmental delay Generalized dystonia Macroglossia Neurodegeneration Oral cleft Micromelia Small for gestational age High forehead Dystonia Central nervous system degeneration Blindness Self-injurious behavior Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Sacral meningocele Right aortic arch with mirror image branching Congenital conductive hearing impairment Perineal fistula Vascular ring Palmoplantar hyperkeratosis Generalized muscle weakness Abnormal toenail morphology Malar flattening Intellectual disability, profound High myopia Dandy-Walker malformation Broad nasal tip Polymicrogyria Smooth philtrum Poor speech Carious teeth Sparse hair Short nose Progressive microcephaly Downslanted palpebral fissures Spasticity Strabismus Limited neck range of motion Decreased cervical spine mobility Abnormal vertebral segmentation and fusion Cervical C2/C3 vertebral fusion Aplasia of the ulna Congenital muscular torticollis Pachygyria Lissencephaly Abnormality of the shoulder Excessive wrinkled skin Subretinal pigment epithelium hemorrhage Fragmented elastic fibers in the dermis Abnormality of the intrinsic pathway Thick cerebral cortex Abnormal subcutaneous fat tissue distribution Prominent veins on trunk Prominent nasolabial fold Abnormal isoelectric focusing of serum transferrin Psychomotor deterioration Thick hair Cutis laxa Delayed closure of the anterior fontanelle Redundant neck skin Generalized joint laxity Decreased muscle mass Emphysema Lipodystrophy Redundant skin Coarse hair Infantile muscular hypotonia Abnormal sacrum morphology Short sternum Xanthomatosis Fatigue Facial palsy Hypertrophic cardiomyopathy Proximal muscle weakness Neonatal hypotonia Polyhydramnios Areflexia Myopathy Cardiomyopathy Respiratory insufficiency Skeletal muscle atrophy Arthrogryposis multiplex congenita Muscle weakness Honeycomb palmoplantar keratoderma Epidermal thickening Ainhum Autoamputation of digits Abnormality of the spinal cord Plantar hyperkeratosis Leukonychia Amniotic constriction ring Muscular dystrophy Muscle cramps Fused cervical vertebrae Minicore myopathy Ectopic anus Abnormal cranial nerve morphology Sprengel anomaly Vertebral fusion Hemiplegia/hemiparesis Renal hypoplasia/aplasia Wide intermamillary distance Webbed neck Flat face Stooped posture Delusions Generalized limb muscle atrophy Skeletal myopathy Type 1 muscle fiber predominance Nemaline bodies Malignant hyperthermia Centrally nucleated skeletal muscle fibers Spinal rigidity Ophthalmoparesis Limb-girdle muscular dystrophy Decreased fetal movement Pierre-Robin sequence Tetralogy of Fallot Meningocele Epidermal acanthosis Hemivertebrae Abnormality of the hair Abnormal vertebral morphology Hypohidrosis Hypoplasia of dental enamel Aganglionic megacolon Omphalocele Choanal atresia Oligohydramnios Conjunctivitis Eczema Postaxial hand polydactyly Nail dysplasia Ectodermal dysplasia Brain atrophy Pulmonary hypoplasia Dry skin Astigmatism Recurrent bacterial infections Abnormality of dental enamel Nail dystrophy Congenital ichthyosiform erythroderma Abnormal eyelash morphology Blepharitis Alopecia of scalp Parakeratosis Uveitis Oligodactyly Ectrodactyly Atonic seizures Absent septum pellucidum Opacification of the corneal stroma Mixed hearing impairment Hydroureter Absent eyebrow Keratitis Intestinal obstruction Erythroderma Scaling skin Urticaria Plagiocephaly Platyspondyly Corneal opacity Abnormal eyelid morphology Bilateral cleft lip and palate Fibrous syngnathia Lower lip pit Abnormality of the scrotum Hypoplasia of the vagina Popliteal pterygium Ankyloblepharon Labial hypoplasia Hypoplastic labia majora Bilateral cleft lip Intercrural pterygium Cutaneous finger syndactyly Hypoplasia of the uterus Pterygium Scrotal hypoplasia Spina bifida occulta Abnormality of the genital system Overgrowth Toe syndactyly Absent scrotum Pyramidal skinfold extending from the base to the top of the nails Camptodactyly of finger Cerebral cortical atrophy Scarring Erythema Respiratory tract infection Developmental regression Camptodactyly Hydronephrosis Photophobia Macrotia Hyperhidrosis Nystagmus Severe short stature Recurrent respiratory infections Agenesis of corpus callosum Delayed skeletal maturation Microphthalmia Respiratory distress Ventriculomegaly Frontal bossing Myopia Absent eyelashes Corneal erosion Hearing abnormality Amenorrhea Purpura Narrow palpebral fissure Hypocalcemia Hallucinations Open mouth Primary amenorrhea Psychosis Peripheral demyelination Renal agenesis Bicuspid aortic valve Underdeveloped nasal alae Vesicoureteral reflux Chorea Hemolytic anemia Bulbous nose Dysmetria Pulmonic stenosis Congenital cataract Holoprosencephaly Arnold-Chiari malformation Blepharophimosis Basal ganglia calcification Hypoparathyroidism Vitiligo Bipolar affective disorder Posterior embryotoxon Anal stenosis Autoimmune thrombocytopenia Axonal loss Autoimmune hemolytic anemia Abnormality of the ear Schizophrenia Inflammation of the large intestine Hypoplasia of the brainstem Acne Obsessive-compulsive behavior Apathy Rheumatoid arthritis Dysdiadochokinesis Cholelithiasis Nasal speech Autoimmunity Aggressive behavior Follicular hyperkeratosis Abnormality of the upper urinary tract Cerebral cortical hemiatrophy Paronychia Episcleritis Hyperconvex fingernails Abnormality of temperature regulation Abnormal nasolacrimal system morphology Subcortical cerebral atrophy Corneal scarring Cheilitis Scleritis Alopecia universalis Oxycephaly Thin eyebrow Alopecia totalis Olivopontocerebellar atrophy Recurrent corneal erosions Hypoplastic fingernail Heat intolerance Hypoplasia of the bladder Thin fingernail Anxiety Hypospadias Arthritis Retrognathia Hypothyroidism Hyperactivity Posteriorly rotated ears Abnormal heart morphology Patent ductus arteriosus Depressivity Obesity Abnormal pelvis bone morphology Thrombocytopenia Absent speech Behavioral abnormality Cerebellar atrophy Atrial septal defect Hydrocephalus Abnormal facial shape Unilateral chest hypoplasia Ichthyosis follicularis Abnormal apolipoprotein level
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