Brachydactyly, and Schizophrenia

Diseases related with Brachydactyly and Schizophrenia

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


Top matches:

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

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 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

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Other less relevant matches:

Medium match JACOBSEN SYNDROME


Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

JACOBSEN SYNDROME Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACOBSEN SYNDROME

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

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

Low match SCHIZOPHRENIA 18; SCZD18


SCHIZOPHRENIA 18; SCZD18 Is also known as schizophrenia 18 with or without an affective disorder

Related symptoms:

  • Schizophrenia


SOURCES: OMIM MENDELIAN

More info about SCHIZOPHRENIA 18; SCZD18

Low match SCHIZOPHRENIA 4; SCZD4


SCHIZOPHRENIA 4; SCZD4 Is also known as schizophrenia susceptibility locus, chromosome 22q11-related

Related symptoms:

  • Abnormality of metabolism/homeostasis
  • Schizophrenia


SOURCES: OMIM MENDELIAN

More info about SCHIZOPHRENIA 4; SCZD4

Low match SCHIZOPHRENIA 19; SCZD19


SCHIZOPHRENIA 19; SCZD19 Is also known as schizophrenia 19 with or without an affective disorder

Related symptoms:

  • Behavioral abnormality
  • Psychosis
  • Schizophrenia
  • Bipolar affective disorder


SOURCES: OMIM MENDELIAN

More info about SCHIZOPHRENIA 19; SCZD19

Low match CHROMOSOME 2P16.3 DELETION SYNDROME


Deletions at 2p16.3 involving exons of NRXN1 are associated with susceptibility to autism, schizophrenia (SCZD17), developmental delay, intellectual disability, and dysmorphic features. The phenotype is highly variable and shows incomplete penetrance (summary by Dabell et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of schizophrenia, see {181500}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Delayed speech and language development
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about CHROMOSOME 2P16.3 DELETION SYNDROME

Top 5 symptoms//phenotypes associated to Brachydactyly and Schizophrenia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Behavioral abnormality Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Brachydactyly and Schizophrenia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Frontal bossing Abnormal facial shape Autism Intellectual disability, mild Macrocephaly Scoliosis Pectus excavatum Short stature Neurological speech impairment Hypoplasia of the maxilla Psychosis Protruding ear Epicanthus Hearing impairment Downslanted palpebral fissures Abnormality of the skeletal system Anteverted nares Hypoplasia of the corpus callosum Hydrocephalus Short distal phalanx of finger Abnormal form of the vertebral bodies Aggressive behavior Cataract Flexion contracture Agenesis of corpus callosum Muscular hypotonia Micrognathia Low-set ears Bipolar affective disorder Growth delay

Rare Symptoms - Less than 30% cases


Cognitive impairment Congestive heart failure Brachycephaly Otitis media Ventriculomegaly Hyperactivity Gait disturbance Kyphosis Optic atrophy Skeletal muscle atrophy Peripheral neuropathy High palate Depressed nasal bridge Feeding difficulties Osteoporosis Sensorineural hearing impairment Strabismus Hypertonia Macrotia Inguinal hernia Thick lower lip vermilion Malar flattening Autistic behavior Broad forehead Narrow iliac wings Self-injurious behavior Widely spaced teeth Cryptorchidism Ptosis Cerebellar vermis hypoplasia Mandibular prognathia Single transverse palmar crease Highly arched eyebrow Thick vermilion border Microphthalmia Thick eyebrow Feeding difficulties in infancy Telecanthus Pes planus Hypertelorism Intellectual disability, severe Microcephaly Obsessive-compulsive behavior Prominent forehead High forehead Thin upper lip vermilion Attention deficit hyperactivity disorder Prominent nasal bridge Abnormality of the dentition Joint hyperflexibility Intrauterine growth retardation Ventricular septal defect Open mouth Smooth philtrum Narrow chest Aplasia/Hypoplasia of the corpus callosum Atrial septal defect Delayed speech and language development Long nose Hypogonadism Abnormal palate morphology Hypothyroidism Osteopenia Slender finger Aplasia/Hypoplasia of the earlobes Broad columella Abnormal thrombocyte morphology Labial hypoplasia Eczema Mitral stenosis Nuclear cataract Broad hallux phalanx Microdontia Ectopic anus Ectropion Duodenal atresia Coarctation of aorta Nasolacrimal duct obstruction Urethral stenosis Abnormality of the head Long hallux Trigonocephaly U-Shaped upper lip vermilion Central hypothyroidism Dehydration Clitoral hypoplasia Macular hypoplasia Giant platelets Toe clinodactyly Abnormality of the anus Annular pancreas Internal hemorrhage Arteria lusoria Bilateral camptodactyly Congenital thrombocytopenia Holoprosencephaly Hand polydactyly Hammertoe Hypoplastic left heart Sinusitis Aplasia/Hypoplasia of the eyebrow Flat occiput Short toe Azoospermia Heart murmur Atrioventricular canal defect Leukodystrophy Aortic valve stenosis Spina bifida Bone marrow hypocellularity Horseshoe kidney Chorioretinal coloboma Short thumb Partial agenesis of the corpus callosum Multicystic kidney dysplasia Pachygyria Chronic constipation Retinal dysplasia Diastasis recti Missing ribs Pancytopenia Double outlet right ventricle Pyloric stenosis Natal tooth Infantile muscular hypotonia Tachypnea Amblyopia Abnormal eyelash morphology Wheezing Transposition of the great arteries Eyelid coloboma Bradykinesia Megakaryocyte dysplasia Basal ganglia calcification Irregular vertebral endplates Insulin-resistant diabetes mellitus Restlessness Striae distensae Hip contracture Congenital hypothyroidism Sparse body hair Ankle clonus Thoracic kyphosis Mixed hearing impairment Truncal obesity Anonychia Metatarsus adductus Bilateral cryptorchidism Melanocytic nevus Plagiocephaly Poor coordination Progressive gait ataxia Spastic paraparesis Basilar impression 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 Absent axillary hair Broad face Posterior polar cataract Abnormal glucose tolerance Ectopic calcification Recurrent ear infections Bone cyst Generalized osteoporosis Tics Dystrophic fingernails Osteolysis Knee flexion contracture Abnormality of the curvature of the vertebral column Neoplasm Diabetes mellitus Pes cavus Babinski sign Areflexia Midface retrusion Myopathy Anemia Ataxia Narrow mouth Facial hypotonia Neurodevelopmental delay Sparse eyebrow Gingival overgrowth Sleep disturbance Anxiety Posteriorly rotated ears Cerebellar hypoplasia Gait ataxia Deeply set eye Paraparesis Hip dysplasia Hypergonadotropic hypogonadism Clonus Gynecomastia Thickened skin Sparse scalp hair Webbed neck Cerebral calcification Nevus Conductive hearing impairment Neurodegeneration Downturned corners of mouth Distal amyotrophy Genu valgum Synophrys Congenital cataract Abnormal pyramidal sign Developmental regression Growth hormone deficiency Immunodeficiency Decreased antibody level in blood Hypodontia Abnormality of retinal pigmentation Decreased body weight Mitral regurgitation Dental malocclusion Short metacarpal Tetraplegia Delayed eruption of teeth Abnormality of the hair Tapered finger Everted lower lip vermilion Wide nose Joint hypermobility Dilated cardiomyopathy Severe global developmental delay Pectus carinatum Wide anterior fontanel Coxa valga Hyperlordosis Cutis marmorata Broad palm Abnormality of digit Progressive spasticity Broad hallux Loss of consciousness Emphysema Abnormality of neuronal migration Large hands Narrow palate Aplasia/Hypoplasia of the cerebellum Abnormality of dental morphology Prominent supraorbital ridges Redundant skin Coarse hair Sleep apnea Cutis laxa Wide mouth Mental deterioration Atonic seizures Dental crowding Nasal speech Deep philtrum Abnormality of the genitourinary system Short chin Narrow face Hallucinations Anorexia Broad thumb Aortic aneurysm Long face Arachnodactyly Short philtrum Camptodactyly of finger Joint laxity Dilatation Cleft palate Abnormality of the voice Emotional lability Coarse facial features Oppositional defiant disorder Kyphoscoliosis Cerebral cortical atrophy Delayed skeletal maturation Cardiomyopathy Muscle weakness Abnormally folded helix Cat cry Low frustration tolerance Disproportionate tall stature Velopharyngeal insufficiency Ascending tubular aorta aneurysm Impaired social interactions Abnormality of the rib cage Macroorchidism Aortic root aneurysm Narrow nasal bridge Thickened calvaria Anteriorly placed anus Intestinal malrotation Recurrent respiratory infections Camptodactyly Low-set, posteriorly rotated ears Intellectual disability, moderate Hydronephrosis Hypoglycemia Retrognathia Constipation Craniosynostosis Clinodactyly of the 5th finger Abnormal heart morphology Patent ductus arteriosus Clinodactyly Hypospadias Hernia Thrombocytopenia Postnatal growth retardation Coloboma Recurrent infections Talipes Premature birth Postural instability Microcornea Iris coloboma Bruising susceptibility Tachycardia Anal atresia Facial asymmetry Abnormal cardiac septum morphology Toe syndactyly Dolichocephaly Hip dislocation Small for gestational age Leukemia Finger syndactyly Skin rash Abnormality of cardiovascular system morphology Cerebral atrophy Spinal canal stenosis Abnormal aortic valve morphology Thick nasal alae Abnormal diaphysis morphology Premature loss of primary teeth Rectal prolapse Hyperextensibility of the finger joints Advanced eruption of teeth Myelopathy Delayed closure of the anterior fontanelle Abnormal tricuspid valve morphology Craniofacial hyperostosis Abnormal mitral valve morphology Restrictive cardiomyopathy Hypoplastic fingernail Acrocyanosis Soft skin Severe sensorineural hearing impairment Broad finger Hyperconvex fingernails Syndactyly Drumstick terminal phalanges Long philtrum Short nose Short neck Talipes equinovarus Wide nasal bridge Spasticity Failure to thrive Abnormality of the nasal alae Cataplexy Thick nasal septum Bifid sternum Uterine prolapse Lumbar kyphosis Retinoschisis Pseudoepiphyses of the metacarpals Stooped posture Abnormality of metabolism/homeostasis



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