Brachydactyly, and Psychosis

Diseases related with Brachydactyly and Psychosis

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


Top matches:

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 AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20


Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20 Is also known as troyer syndrome|childhood-onset spastic paraparesis-distal muscle wasting syndrome|spastic paraparesis, childhood-onset, with distal muscle wasting|spg20|spastic paraplegia, autosomal recessive, troyer type

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20

Low match KLEEFSTRA SYNDROME 1; KLEFS1


Submicroscopic subtelomeric deletions of chromosome 9q are associated with a recognizable mental retardation syndrome (Harada et al., 2004; Iwakoshi et al., 2004; Stewart et al., 2004; Neas et al., 2005). Common features in patients with 9q subtelomeric deletion syndrome are severe mental retardation, hypotonia, brachy(micro)cephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects. Genetic Heterogeneity of Kleefstra SyndromeKLEFS2 (OMIM ) is caused by mutation in the KMT2C gene (OMIM ) on chromosome 7q36.

KLEEFSTRA SYNDROME 1; KLEFS1 Is also known as chromosome 9q34.3 deletion syndrome|9q subtelomeric deletion syndrome|9q- syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about KLEEFSTRA SYNDROME 1; KLEFS1

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Other less relevant matches:

Low match MATERNAL PHENYLKETONURIA


Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism (see this term), an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.

MATERNAL PHENYLKETONURIA Is also known as phenylalanine hydroxylase deficiency|phenylketonuric embryopathy|maternal pku|pah deficiency|folling disease|maternal hyperphenylalaninemia|hyperphenylalaninemic embryopathy|oligophrenia phenylpyruvica

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MATERNAL PHENYLKETONURIA

Low 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

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

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 CRANIOSYNOSTOSIS 3; CRS3


Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Craniosynostosis-3 includes coronal, sagittal, and multisuture forms (Sharma et al., 2013).For discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Strabismus
  • Ptosis
  • Brachydactyly
  • Syndactyly


SOURCES: OMIM MENDELIAN

More info about CRANIOSYNOSTOSIS 3; CRS3

Low match HYPOCHONDROPLASIA


Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Brachydactyly
  • Macrocephaly
  • Skeletal dysplasia


SOURCES: ORPHANET MENDELIAN

More info about HYPOCHONDROPLASIA

Low match EPILEPSY, NOCTURNAL FRONTAL LOBE, 5; ENFL5


Nocturnal frontal lobe epilepsy-5 is an autosomal dominant focal epilepsy syndrome characterized by childhood onset of clusters of motor seizures during sleep. Some patients may develop behavioral or psychiatric manifestations and/or intellectual disability. The phenotype is more severe than observed in other genetic forms of ENFL (summary by Heron et al., 2012).For a general description and a discussion of genetic heterogeneity of ENFL, see ENFL1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Cognitive impairment
  • Behavioral abnormality
  • Depressivity


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, NOCTURNAL FRONTAL LOBE, 5; ENFL5

Top 5 symptoms//phenotypes associated to Brachydactyly and Psychosis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Behavioral abnormality Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Cognitive impairment Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Scoliosis Growth delay Anteverted nares Autism Aggressive behavior Generalized hypotonia Intellectual disability, mild Muscular hypotonia Macrocephaly Hypertelorism Single transverse palmar crease Short stature Obsessive-compulsive behavior Schizophrenia Delayed speech and language development Midface retrusion Joint hyperflexibility Attention deficit hyperactivity disorder Ventriculomegaly Strabismus Motor delay Intrauterine growth retardation Agenesis of corpus callosum Frontal bossing Low-set ears Pectus excavatum Hyperactivity

Rare Symptoms - Less than 30% cases


Brachycephaly Advanced eruption of teeth Pyloric stenosis Sleep apnea Self-injurious behavior Sleep disturbance Joint hypermobility Self-mutilation Short toe Kyphoscoliosis Anxiety Hydronephrosis Abnormal form of the vertebral bodies Ptosis Constipation Dental malocclusion Flexion contracture High palate Abnormality of the skeletal system Downslanted palpebral fissures Coarctation of aorta Delayed eruption of teeth Renal cyst Mandibular prognathia Obesity Hernia Malar flattening Short nose Intellectual disability, severe Micrognathia Cryptorchidism Hearing impairment Cerebral cortical atrophy Micropenis Gastroesophageal reflux Cataract Coarse facial features Developmental regression Abnormality of the pinna Autistic behavior Broad forehead Abnormality of the cerebral white matter Flat face Everted lower lip vermilion Highly arched eyebrow Cleft palate Scleroderma Skeletal muscle atrophy Abnormal heart morphology Hyperreflexia Depressivity Aplasia/Hypoplasia of the corpus callosum Epicanthus Atrial septal defect Inguinal hernia Hallucinations Emotional lability Hyperlordosis Long nose Congestive heart failure Wide mouth Open mouth Dilatation Neurological speech impairment Hypoplasia of the maxilla Hypertonia Protruding ear Spinal canal stenosis Feeding difficulties Spasticity Muscle weakness Tapered finger Ventricular septal defect Wide nasal bridge Macrotia Hypoplasia of the corpus callosum Thickened calvaria Abnormality of digit Atonic seizures Emphysema Delayed skeletal maturation Loss of consciousness Broad hallux Progressive spasticity Optic atrophy Sensorineural hearing impairment Depressed nasal bridge Anteriorly placed anus Maternal hyperphenylalaninemia Gait disturbance Abnormal facial shape Peripheral neuropathy Kyphosis Hydrocephalus Cardiomyopathy Reduced phenylalanine hydroxylase activity Broad palm Abnormality of dental morphology Pes planus Pectus carinatum Hypodontia Tetraplegia Short metacarpal Cerebellar vermis hypoplasia Thick vermilion border Wide nose Short distal phalanx of finger Thick eyebrow Mitral regurgitation Decreased body weight Dilated cardiomyopathy Severe global developmental delay Abnormality of retinal pigmentation Wide anterior fontanel Telecanthus Abnormality of the hair Coxa valga Narrow palate Cutis laxa Widely spaced teeth Coarse hair Redundant skin Prominent supraorbital ridges Aplasia/Hypoplasia of the cerebellum Feeding difficulties in infancy Large hands Cutis marmorata Abnormality of neuronal migration Mental deterioration Thick lower lip vermilion Thick nasal septum Severe sensorineural hearing impairment Syringomyelia Pulmonary artery atresia Optic nerve coloboma Hydrocele testis Missing ribs Multiple renal cysts Severe intrauterine growth retardation Arnold-Chiari type I malformation Severe combined immunodeficiency Combined immunodeficiency Widely-spaced maxillary central incisors Unilateral renal agenesis Anophthalmia Language impairment Hand polydactyly Bilateral ptosis Aortic regurgitation Microretrognathia Narrow palpebral fissure Hemivertebrae Chorioretinitis Absent nasal bridge Congenital diaphragmatic hernia Abnormality of the metaphysis Status epilepticus Focal-onset seizure Generalized tonic-clonic seizures Childhood onset short-limb short stature Abnormality of femur morphology Abnormality of the elbow Genu varum Abnormality of pelvic girdle bone morphology Bowing of the long bones Osteoarthritis Bipolar affective disorder Micromelia Skeletal dysplasia Anterior plagiocephaly Partial agenesis of the corpus callosum Hallux valgus Abnormality of the outer ear Low anterior hairline Craniosynostosis Syndactyly Pointed chin Renal agenesis Soft skin Premature loss of primary teeth Stooped posture Cataplexy Hyperconvex fingernails Abnormal tricuspid valve morphology Broad finger Narrow iliac wings Thick nasal alae Abnormal diaphysis morphology Rectal prolapse Retinoschisis Hyperextensibility of the finger joints Myelopathy Abnormal aortic valve morphology Delayed closure of the anterior fontanelle Craniofacial hyperostosis Abnormal mitral valve morphology Restrictive cardiomyopathy Hypoplastic fingernail Acrocyanosis Pseudoepiphyses of the metacarpals Lumbar kyphosis Underdeveloped nasal alae Recurrent infections Small hand Smooth philtrum Talipes Coloboma Blepharophimosis Deeply set eye EEG abnormality Polydactyly Posteriorly rotated ears Microphthalmia Uterine prolapse Immunodeficiency Respiratory insufficiency Short neck Myopia Hypertension Drumstick terminal phalanges Abnormality of the nasal alae Increased level of hippuric acid in urine Bifid sternum Phenylpyruvic acidemia Pulmonary artery stenosis Microphakia Distal amyotrophy Choreoathetosis Overgrowth Specific learning disability Prominent nose Gliosis Abnormal cerebellum morphology Short foot Dysmetria Progressive muscle weakness Lower limb muscle weakness Paraplegia Genu valgum Abnormality of the foot Spastic paraplegia Camptodactyly Difficulty walking Lower limb spasticity Spastic gait Pes cavus Ankle clonus Spastic dysarthria Abnormality of the thumb Dysuria Upper limb muscle weakness Premature loss of teeth Ankle contracture Cerebellar vermis atrophy Spastic diplegia Clonus Hammertoe Impaired vibratory sensation Abnormality of the hand Slurred speech Drooling Spastic paraparesis Hoarse voice Gait ataxia Babinski sign Upper limb spasticity Arachnodactyly Abnormality of the genitourinary system Short chin Narrow face Anorexia Dental crowding Broad thumb Long face Prominent nasal bridge Nasal speech Short philtrum Camptodactyly of finger Joint laxity Thin upper lip vermilion High forehead Prominent forehead Abnormality of the dentition Deep philtrum Abnormality of the voice Clinodactyly Low frustration tolerance Cerebellar atrophy Dysphagia Dysarthria Failure to thrive Abnormally folded helix Cat cry Oppositional defiant disorder Velopharyngeal insufficiency Aortic aneurysm Ascending tubular aorta aneurysm Impaired social interactions Abnormality of the rib cage Macroorchidism Aortic root aneurysm Slender finger Narrow nasal bridge Disproportionate tall stature Speech apraxia Mood swings Prenatal maternal abnormality Tremor Abnormality of the liver Postnatal growth retardation Irritability Osteopenia Abnormality of cardiovascular system morphology Headache Vomiting Anemia Pruritus Tracheobronchomalacia Exaggerated cupid's bow Conotruncal defect U-Shaped upper lip vermilion Bronchomalacia Persistence of primary teeth Abnormal myelination Skin rash Dry skin Thickened helices Blue irides Hyperphenylalaninemia Body odor Folate deficiency Mood changes Abnormal posturing Generalized hypopigmentation Fair hair Poor coordination Nausea Iron deficiency anemia Hypoplastic left heart Malnutrition Spontaneous abortion Eczema Cerebral calcification Delayed myelination Asthma Abnormal renal morphology Tracheomalacia Overbite Hyperextensible hand joints Upslanted palpebral fissure Recurrent respiratory infections Arrhythmia Hypospadias Renal insufficiency Talipes equinovarus Hyperplasia of midface Morphea Abnormal cardiac septum morphology Suicidal ideation Narrow jaw Panic attack Knee clonus Abnormal hand morphology Abnormality of brain morphology Abnormality of the nares Dyspnea Synophrys Protruding tongue Bicuspid aortic valve Natal tooth Bowel incontinence Supernumerary nipple Impulsivity Apathy Chronic otitis media Tented upper lip vermilion Stereotypy Pulmonic stenosis Hypoplasia of penis Tetralogy of Fallot Limitation of joint mobility Vesicoureteral reflux Macroglossia Downturned corners of mouth Poor speech Facial asymmetry Personality disorder



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