Cleft palate, and Psychosis

Diseases related with Cleft palate and Psychosis

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


Top matches:

Low match X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS


The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.

X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS Is also known as lujan syndrome|mental retardation, x-linked, with marfanoid habitus|lujan-fryns syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS

Low match 3Q29 MICRODELETION SYNDROME


3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.

3Q29 MICRODELETION SYNDROME Is also known as del(3)(q29)|microdeletion 3q29 syndrome|3q subtelomere deletion syndrome|monosomy 3q29|monosomy 3qter|3qter deletion

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about 3Q29 MICRODELETION SYNDROME

Low match PROXIMAL 16P11.2 MICRODELETION SYNDROME


The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.

PROXIMAL 16P11.2 MICRODELETION SYNDROME Is also known as proximal del(16)(p11.2)|proximal monosomy 16p11.2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PROXIMAL 16P11.2 MICRODELETION SYNDROME

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Other less relevant matches:

Low 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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

Low match MENTAL RETARDATION, X-LINKED 30; MRX30


MENTAL RETARDATION, X-LINKED 30; MRX30 Is also known as mental retardation, x-linked 47|mrx47

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • High palate


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 30; MRX30

Low match METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF


cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF Is also known as cobalamin, defect in lysosomal release of|cobalamin f defect|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblf|cblf|vitamin b12 storage disease|vitamin b12 lysosomal release defect|methylmalonic aciduria due to vitamin b12-rele

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF

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 CLASSIC HOMOCYSTINURIA


Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system.

CLASSIC HOMOCYSTINURIA Is also known as cystathionine beta-synthase deficiency|homocystinuria due to cystathionine beta-synthase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Cataract
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC HOMOCYSTINURIA

Low 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

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

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
High palate Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly

Common Symptoms - More than 50% cases


Delayed speech and language development

Uncommon Symptoms - Between 30% and 50% cases


Hyperactivity Intellectual disability, mild Macrotia Behavioral abnormality Cognitive impairment Feeding difficulties Cataract Thin upper lip vermilion Muscular hypotonia Short nose Hernia Micrognathia Aggressive behavior Low-set ears Intellectual disability, severe Macrocephaly Schizophrenia Hallucinations Anorexia Ataxia Abnormal facial shape Dental crowding Nasal speech Gait disturbance Hypertension Short neck Inguinal hernia Posteriorly rotated ears Anxiety Tapered finger Hypertelorism Myopia Open mouth EEG abnormality Frontal bossing Growth delay Flexion contracture Abnormality of the dentition Atrial septal defect Prominent nasal bridge Long face Autism Attention deficit hyperactivity disorder Pectus excavatum

Rare Symptoms - Less than 30% cases


Polyneuropathy Unilateral renal agenesis Sensory neuropathy Pulmonary artery atresia Narrow palpebral fissure Renal agenesis Peripheral neuropathy Underdeveloped nasal alae Small hand Blepharophimosis Flat face Abnormality of the pinna Micropenis Obesity Recurrent infections Immunodeficiency Anteverted nares Ventriculomegaly Intrauterine growth retardation Wide nasal bridge Motor delay Ptosis Strabismus Hearing impairment Hypoplasia of the maxilla Anemia Choreoathetosis Restlessness Drooling Hyperreflexia Tremor Dystonia Kyphosis Juvenile rheumatoid arthritis Babinski sign Genu valgum Tetraplegia Abnormality of extrapyramidal motor function Autoimmune thrombocytopenia Spastic tetraplegia Paraparesis Bipolar affective disorder Rheumatoid arthritis Purpura Optic atrophy Primary amenorrhea Amenorrhea Sparse scalp hair Abnormality of retinal pigmentation Mental deterioration Arthritis Hemiplegia/hemiparesis Hypothyroidism Abnormal heart morphology Thrombocytopenia Absent speech Developmental regression Prominent nose Narrow face Microphthalmia Gastroesophageal reflux Joint laxity High forehead Gait ataxia Joint hyperflexibility Dilatation Epicanthus Downslanted palpebral fissures Respiratory tract infection Patent ductus arteriosus Disproportionate tall stature Depressivity Hypospadias Obsessive-compulsive behavior Brachycephaly Agenesis of corpus callosum Short philtrum Protruding ear Long nose Failure to thrive Arachnodactyly Velopharyngeal insufficiency Macroorchidism Ventricular septal defect Pulmonic stenosis Facial asymmetry Pectus carinatum Small for gestational age Elevated hepatic transaminase Osteoporosis Glaucoma Insulin-resistant diabetes mellitus Clumsiness Postnatal microcephaly Spastic gait Joint stiffness Sparse eyebrow Spastic paraparesis Poor coordination Flat occiput Progressive spasticity Hypoplasia of the uterus Hepatomegaly Juvenile cataract Aplasia/Hypoplasia of the eyebrow Facial hypotonia Mania Progressive spastic paraparesis Bruxism Shuffling gait Excessive salivation Slender build Heart block Abnormal pyramidal sign Apraxia Incoordination Glossitis Methylmalonic acidemia Homocystinuria Methylmalonic aciduria Stomatitis Megaloblastic anemia Macrocytic anemia Pancytopenia Decreased methylcobalamin Abnormality of the skin Aciduria Neutropenia Lethargy Microtia Skin rash Increased thyroid-stimulating hormone level Hyperhomocystinemia Megaloblastic bone marrow Anodontia Pneumonia Parkinsonism Paraplegia Decreased serum testosterone level Spastic paraplegia Recurrent fractures Muscular hypotonia of the trunk Pes cavus Decreased serum estradiol Decreased adenosylcobalamin Abnormal T-wave Encephalopathy Abnormal spermatogenesis Streak ovary Spasticity Cystathioninemia Cystathioninuria Decreased methionine synthase activity Retinal detachment Pulmonary embolism Gastrointestinal hemorrhage Restrictive deficit on pulmonary function testing Diffuse white matter abnormalities Decreased testicular size EMG: chronic denervation signs Feeding difficulties in infancy Progressive peripheral neuropathy Motor polyneuropathy Aqueductal stenosis Axonal degeneration/regeneration Demyelinating peripheral neuropathy Facial diplegia Increased CSF protein Dehydration Turricephaly Bilateral sensorineural hearing impairment Onion bulb formation Dental malocclusion Limb tremor Infantile spasms Abnormality of metabolism/homeostasis Sparse hair Camptodactyly Diabetes mellitus Hypogonadism Alopecia Hypotrichosis Diarrhea Decreased sensory nerve conduction velocity Dysarthria Sensorineural hearing impairment Delayed puberty Abnormal anterior horn cell morphology Abnormality of movement Triangular face Hypoplasia of the fallopian tube Partial agenesis of the corpus callosum 2-3 toe syndactyly Premature ovarian insufficiency Arthrogryposis multiplex congenita Cerebral ischemia Decreased serum insulin-like growth factor 1 Fine hair Esophageal varix Myocardial infarction Arteriovenous malformation Hypergonadotropic hypogonadism Subcutaneous hemorrhage Hypogonadotrophic hypogonadism Ectopia lentis Intracranial hemorrhage Urticaria Venous thrombosis Hyperlipidemia Amblyopia Arterial thrombosis Abnormality of amino acid metabolism Decreased motor nerve conduction velocity Peripheral axonal neuropathy Decreased nerve conduction velocity Low anterior hairline Sensorimotor neuropathy Narrow forehead Esotropia Progressive extrapyramidal movement disorder Inability to walk Limb muscle weakness Nystagmus Abnormality of the cerebral white matter Craniosynostosis Facial palsy Neonatal hypotonia Areflexia Skeletal muscle atrophy Muscle weakness CNS hypomyelination Abnormality of the hand Acidosis Coloboma Pointed chin Short toe Congenital diaphragmatic hernia Renal cyst Smooth philtrum Talipes Broad forehead Wide mouth Microretrognathia Autistic behavior Deeply set eye Polydactyly Midface retrusion Malar flattening Congestive heart failure Respiratory insufficiency Hemivertebrae Aortic regurgitation Six lumbar vertebrae Multiple renal cysts Short stature Absent nasal bridge Widely-spaced maxillary central incisors Chorioretinitis Optic nerve coloboma Hydrocele testis Missing ribs Severe intrauterine growth retardation Pyloric stenosis Arnold-Chiari type I malformation Severe combined immunodeficiency Syringomyelia Combined immunodeficiency Anophthalmia Language impairment Hand polydactyly Bilateral ptosis Cryptorchidism Subvalvular aortic stenosis Hypoplasia of the corpus callosum Deep philtrum Abnormality of the rib cage Aortic root aneurysm Slender finger Narrow nasal bridge Emotional lability Aortic aneurysm Abnormality of the voice Abnormality of the genitourinary system Ascending tubular aorta aneurysm Aplasia/Hypoplasia of the corpus callosum Short chin Broad thumb Neurological speech impairment Camptodactyly of finger Prominent forehead Brachydactyly Impaired social interactions Low frustration tolerance Broad face Single transverse palmar crease Shallow orbits Sandal gap Horseshoe kidney Aspiration Aortic valve stenosis Stereotypy Pulmonary arterial hypertension Everted lower lip vermilion Oppositional defiant disorder Abnormality of skin pigmentation Oral cleft Intellectual disability, moderate Cleft lip Clinodactyly of the 5th finger Clinodactyly Abnormally folded helix Cat cry Fever Hydrocephalus Long ear Seborrheic dermatitis Right aortic arch Mood swings Platybasia Perimembranous ventricular septal defect Interrupted aortic arch Graves disease Aplasia of the uterus Abnormality of the endocrine system Duodenal stenosis Echolalia Myelomeningocele Truncus arteriosus Pierre-Robin sequence Delusions Meningocele Hearing abnormality Impaired T cell function Paranoia Vitiligo Right aortic arch with mirror image branching Short attention span Agitation Delayed gross motor development Upslanted palpebral fissure Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Sacral meningocele Congenital conductive hearing impairment Retinal vascular tortuosity Perineal fistula Vascular ring Central nervous system degeneration Arteria lusoria Aplasia of the thymus Psychotic episodes Conotruncal defect Giant platelets Hypoparathyroidism Posterior embryotoxon Cerebellar atrophy Bulbous nose Tetralogy of Fallot Peripheral demyelination Specific learning disability Vesicoureteral reflux Chorea Bifid uvula Hemolytic anemia Dysmetria Renal dysplasia Anal atresia Congenital cataract Autoimmunity Conductive hearing impairment Umbilical hernia Retrognathia Dementia Abnormality of cardiovascular system morphology Low posterior hairline Spina bifida Anal stenosis Hypoplasia of the brainstem Submucous cleft hard palate Axonal loss Autoimmune hemolytic anemia Basal ganglia calcification Abnormality of the ear Myopathic facies Inflammation of the large intestine Acne Hypocalcemia Apathy Psoriasiform dermatitis Dysdiadochokinesis Cholelithiasis Arnold-Chiari malformation Bicuspid aortic valve Holoprosencephaly Multicystic kidney dysplasia Progressive alopecia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Overgrowth, related diseases and genetic alterations Ptosis and Carious teeth, related diseases and genetic alterations Flexion contracture and Progressive cerebellar ataxia, related diseases and genetic alterations Strabismus and Broad forehead, related diseases and genetic alterations

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