Abnormal facial shape, and Schizophrenia

Diseases related with Abnormal facial shape and Schizophrenia

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Schizophrenia that can help you solving undiagnosed cases.


Top matches:

Medium 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

Medium match XQ25 MICRODUPLICATION SYNDROME


Xq25 duplication syndrome is an X-linked neurodevelopmental disorder characterized by delayed development and intellectual disability associated with abnormal behavior and dysmorphic facial features. Additional variable features may include thin corpus callosum on brain imaging and sleep disturbances. Carrier females may be mildly affected (summary by Leroy et al., 2016).

XQ25 MICRODUPLICATION SYNDROME Is also known as xq25 microtriplication|dup(x)(q25)

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about XQ25 MICRODUPLICATION SYNDROME

Medium match 15Q13.3 MICRODELETION SYNDROME


15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.

15Q13.3 MICRODELETION SYNDROME Is also known as del(15)(q13.3)|chromosome 15q13.3 microdeletion syndrome|monosomy 15q13.3

Related symptoms:

  • Seizures
  • Schizophrenia
  • Bipolar affective disorder


SOURCES: MESH MENDELIAN

More info about 15Q13.3 MICRODELETION SYNDROME

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Other less relevant matches:

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

Medium 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

Medium match 17Q12 MICRODELETION SYNDROME


17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Müllerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcaemia have also been reported.

17Q12 MICRODELETION SYNDROME Is also known as del(17)(q12)|monosomy 17q12

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q12 MICRODELETION SYNDROME

Medium match 1Q21.1 MICRODELETION SYNDROME


1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.

1Q21.1 MICRODELETION SYNDROME Is also known as monosomy 1q21.1|del(1)(q21)

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1Q21.1 MICRODELETION SYNDROME

Medium 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

Medium 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

Medium match COFFIN-LOWRY SYNDROME


Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.

COFFIN-LOWRY SYNDROME Is also known as cls

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COFFIN-LOWRY SYNDROME

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Schizophrenia

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

Patients with Abnormal facial shape and Schizophrenia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Scoliosis

Uncommon Symptoms - Between 30% and 50% cases


Short stature

Common Symptoms - More than 50% cases


Aggressive behavior

Uncommon Symptoms - Between 30% and 50% cases


Behavioral abnormality Hearing impairment Autism Frontal bossing Delayed speech and language development Anxiety Hyperactivity Mandibular prognathia Pectus excavatum Cataract Psychosis Hypoplasia of the corpus callosum Intellectual disability, severe Epicanthus Micrognathia Intellectual disability, mild Microcephaly Hydrocephalus Macrocephaly Muscular hypotonia Open mouth Protruding ear Short distal phalanx of finger Anteverted nares Joint hyperflexibility Highly arched eyebrow Hypoplasia of the maxilla Malar flattening Cognitive impairment Growth delay Macrotia Depressivity Inguinal hernia Cryptorchidism Agenesis of corpus callosum Downslanted palpebral fissures Obsessive-compulsive behavior

Rare Symptoms - Less than 30% cases


Depressed nasal bridge Velopharyngeal insufficiency Nasal speech Diabetes mellitus Joint laxity Aplasia/Hypoplasia of the corpus callosum Hallucinations Broad thumb Neurological speech impairment Prominent nasal bridge Attention deficit hyperactivity disorder Hydronephrosis High forehead Brachycephaly Atrial septal defect Ventricular septal defect Intrauterine growth retardation Brachydactyly Feeding difficulties Flexion contracture Retrognathia Deeply set eye Short foot Skeletal muscle atrophy Mental deterioration Narrow iliac wings Basal ganglia calcification Self-injurious behavior Abnormal form of the vertebral bodies Thick lower lip vermilion Congenital cataract Conductive hearing impairment Hypothyroidism Kyphosis Hypertonia Abnormality of the skeletal system Peripheral neuropathy Multicystic kidney dysplasia Anemia Interrupted aortic arch Truncus arteriosus Broad hallux Vesicoureteral reflux Bulbous nose Joint hypermobility Patent ductus arteriosus Microphthalmia Sensorineural hearing impairment Strabismus Aplasia of the uterus Unilateral renal agenesis Cleft palate Gait disturbance Ataxia Broad forehead Posteriorly rotated ears Thick eyebrow Dysmetria Cerebellar hypoplasia Myopathy Long face Thick vermilion border Kyphoscoliosis Distal amyotrophy Low-set ears Sleep disturbance Thin upper lip vermilion Amenorrhea Cerebellar vermis hypoplasia Autistic behavior Primary amenorrhea Pes cavus Muscle weakness Bipolar affective disorder Restlessness Poor coordination Gait ataxia Long nose Myopathic facies Dysdiadochokinesis Delayed skeletal maturation Widely spaced teeth Abnormality of the ear Apathy Autoimmune thrombocytopenia Submucous cleft hard palate Axonal loss Acne Hypoplasia of the brainstem Inflammation of the large intestine Autoimmune hemolytic anemia Meningocele Anal stenosis Juvenile rheumatoid arthritis Impaired T cell function Right aortic arch Mood swings Platybasia Perimembranous ventricular septal defect Graves disease Seborrheic dermatitis Pulmonary artery atresia Posterior embryotoxon Abnormality of the endocrine system Echolalia Myelomeningocele Pierre-Robin sequence Delusions Hearing abnormality Hypoparathyroidism Vitiligo Psoriasiform dermatitis Mitochondrial myopathy Rheumatoid arthritis Recurrent infections Umbilical hernia Dementia Abnormal heart morphology Hypospadias Obesity Hernia Thrombocytopenia Absent speech Abnormality of cardiovascular system morphology Immunodeficiency Short nose Cerebellar atrophy Short neck Fever Superiorly displaced ears Calcification of the auricular cartilage Increased size of the mandible Absent facial hair Posterior scalloping of vertebral bodies Torus palatinus Motor tics Arthritis Abnormality of the pinna Cholelithiasis Low posterior hairline Abnormality of the hand Arnold-Chiari malformation Duodenal stenosis Holoprosencephaly Purpura Narrow palpebral fissure Hypocalcemia Spina bifida Renal dysplasia Tetralogy of Fallot Blepharophimosis Peripheral demyelination Specific learning disability Renal agenesis Underdeveloped nasal alae Chorea Bifid uvula Hemolytic anemia Anal atresia Pulmonic stenosis Autoimmunity Bicuspid aortic valve Aplasia of the thymus Paranoia Broad palm Hypoplastic fingernail Acrocyanosis Soft skin Severe sensorineural hearing impairment Spinal canal stenosis Anteriorly placed anus Atonic seizures Thickened calvaria Abnormality of digit Abnormal mitral valve morphology Progressive spasticity Loss of consciousness Emphysema Abnormality of neuronal migration Cutis marmorata Large hands Aplasia/Hypoplasia of the cerebellum Abnormality of dental morphology Prominent supraorbital ridges Restrictive cardiomyopathy Craniofacial hyperostosis Coarse hair Hyperconvex fingernails Abnormality of the nasal alae Thick nasal septum Bifid sternum Uterine prolapse Lumbar kyphosis Retinoschisis Pseudoepiphyses of the metacarpals Stooped posture Cataplexy Abnormal tricuspid valve morphology Delayed closure of the anterior fontanelle Broad finger Thick nasal alae Abnormal diaphysis morphology Premature loss of primary teeth Rectal prolapse Hyperextensibility of the finger joints Advanced eruption of teeth Myelopathy Abnormal aortic valve morphology Redundant skin Sleep apnea Retinal vascular tortuosity Sacral meningocele Coarse facial features Cerebral cortical atrophy Congestive heart failure Cardiomyopathy Ventriculomegaly Optic atrophy Hypertelorism Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Right aortic arch with mirror image branching Telecanthus Congenital conductive hearing impairment Perineal fistula Vascular ring Central nervous system degeneration Arteria lusoria Absent axillary hair Psychotic episodes Conotruncal defect Giant platelets Pes planus Feeding difficulties in infancy Cutis laxa Tetraplegia Narrow palate Coxa valga Abnormality of the hair Wide anterior fontanel Abnormality of retinal pigmentation Decreased body weight Mitral regurgitation Dental malocclusion Short metacarpal Hypodontia Hyperlordosis Delayed eruption of teeth Single transverse palmar crease Tapered finger Everted lower lip vermilion Wide nose Dilated cardiomyopathy Severe global developmental delay Pectus carinatum Wide mouth Basilar impression Hip contracture Posterior polar cataract Hypermetropia Small nail Renal hypoplasia Bilateral sensorineural hearing impairment Oligohydramnios Elevated serum creatine phosphokinase Short palm Stage 5 chronic kidney disease Facial asymmetry Nail dystrophy Recurrent urinary tract infections Elevated hepatic transaminase Cerebral atrophy Renal insufficiency Difficulty walking Myalgia Abnormally folded helix Cat cry Oppositional defiant disorder Hypertrichosis Large fontanelles Pallor Maturity-onset diabetes of the young Abnormality of upper lip Ureterocele Hyperconvex nail Subcortical cerebral atrophy Urethral stenosis Hyperechogenic kidneys Long toe Tremor Ovarian cyst Sparse and thin eyebrow Upper limb undergrowth Shawl scrotum Long fingers Language impairment Focal impaired awareness seizure Renal hypoplasia/aplasia Hyporeflexia Horizontal nystagmus Low frustration tolerance Ascending tubular aorta aneurysm Aplasia of the vagina Frequent falls Small hand Camptodactyly of finger Sensory impairment Pigmentary retinopathy Intention tremor Prominent forehead Dilatation Abnormality of the dentition Limb ataxia Inability to walk Truncal ataxia Gowers sign Increased variability in muscle fiber diameter Multiple lipomas Hyperthyroidism Enlarged interhemispheric fissure Speech articulation difficulties Thick hair Short philtrum Distal sensory impairment Impaired social interactions Abnormality of the voice Abnormality of the rib cage Macroorchidism Aortic root aneurysm Slender finger Narrow nasal bridge Disproportionate tall stature Emotional lability Aortic aneurysm Distal muscle weakness Arachnodactyly Deep philtrum Abnormality of the genitourinary system Retinopathy Short chin Narrow face Anorexia Dental crowding Falls Hypoplasia of the bladder Ureteral atresia Abnormal glucose tolerance Hypergonadotropic hypogonadism Melanocytic nevus Flat face Abnormal palate morphology Plagiocephaly Osteolysis Spastic paraparesis Knee flexion contracture Paraparesis Clonus Metatarsus adductus Gynecomastia Thickened skin Drooling Sparse scalp hair Delayed gross motor development Bradykinesia Cerebral calcification Hip dysplasia Bilateral cryptorchidism Anonychia Nevus Progressive gait ataxia Upslanted palpebral fissure Ectopic calcification Recurrent ear infections Bone cyst Generalized osteoporosis Tics Dystrophic fingernails Broad face Thoracic kyphosis Truncal obesity Irregular vertebral endplates Insulin-resistant diabetes mellitus Striae distensae Prolactin excess Congenital hypothyroidism Sparse body hair Ankle clonus Mixed hearing impairment Otitis media Neurodegeneration Pica Clinodactyly of the 5th finger Hand polydactyly Coarctation of aorta Iris coloboma Gingival overgrowth Toe syndactyly Abnormal cardiac septum morphology Intellectual disability, moderate Sparse eyebrow Neurodevelopmental delay Transposition of the great arteries Facial hypotonia Long philtrum Talipes equinovarus Wide nasal bridge Motor delay Failure to thrive Unicornuate uterus Pancreatic aplasia High hypermetropia Foot polydactyly Downturned corners of mouth Narrow mouth Genu valgum Narrow chest Synophrys Agitation Abnormal pyramidal sign Developmental regression Osteopenia Short attention span Hypogonadism Broad hallux phalanx Osteoporosis Babinski sign Areflexia Midface retrusion Long ear Smooth philtrum Ptosis Neoplasm Ankyloglossia Drumstick terminal phalanges



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Long philtrum, related diseases and genetic alterations Intellectual disability, severe and Hypopigmentation of the skin, related diseases and genetic alterations Micrognathia and Cholestasis, related diseases and genetic alterations Nystagmus and Rheumatoid arthritis, related diseases and genetic alterations Sensorineural hearing impairment and Irritability, related diseases and genetic alterations

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