Brachydactyly, and Stereotypy

Diseases related with Brachydactyly and Stereotypy

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


Top matches:

Low match 5Q14.3 MICRODELETION SYNDROME


The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.

5Q14.3 MICRODELETION SYNDROME Is also known as monosomy 5q14.3|del(5)(q14.3)|mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 5Q14.3 MICRODELETION SYNDROME

Low match X-LINKED INTELLECTUAL DISABILITY, CANTAGREL TYPE


X-linked Mental retardation Cantagrel type is characterised by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, CANTAGREL TYPE

Low match DUPLICATION/INVERSION 15Q11


The duplication/inversion 15q11 or isodicentric 15 chromosome (inv dup(15) or idic(15)) syndrome is a chromosomal disorder with distinctive clinical findings characterized by early central hypotonia, developmental delay and intellectual deficit, epilepsy, and autistic behavior.

DUPLICATION/INVERSION 15Q11 Is also known as invdup(15)|non-distal tetrasomy 15q|isodicentric 15 chromosome|non-telomeric tetrasomy 15q|idic(15)

Related symptoms:

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


SOURCES: ORPHANET MESH MENDELIAN

More info about DUPLICATION/INVERSION 15Q11

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Other less relevant matches:

Low match 22Q11.2 MICRODUPLICATION SYNDROME


The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS; see this term), establishing a complementary duplication syndrome.

22Q11.2 MICRODUPLICATION SYNDROME Is also known as duplication 22q11.2|chromosome 22q11.2 microduplication syndrome|trisomy 22q11.2|dup(22)(q11)

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 22Q11.2 MICRODUPLICATION SYNDROME

Low match COFFIN-SIRIS SYNDROME 6; CSS6


Coffin-Siris syndrome-6 is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies. Some patients have fifth digit clinodactyly with small nails. Other congenital anomalies and seizures may be present. This description is based on reports of 7 unrelated patients (Shang et al., 2015; Van Paemel et al., 2017; Bramswig et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 6; CSS6

Low match SMITH-MAGENIS SYNDROME


Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.

SMITH-MAGENIS SYNDROME Is also known as 17p11.2 microdeletion syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about SMITH-MAGENIS SYNDROME

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

Low match 2Q37 MICRODELETION SYNDROME


Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.

2Q37 MICRODELETION SYNDROME Is also known as albright hereditary osteodystrophy-like syndrome|del(2)(q37)|monosomy 2q37-qter|brachydactyly-intellectual disability syndrome|albright hereditary osteodystrophy type 3|brachydactyly-mental retardation syndrome|bdmr|deletion 2q37-qter|deletion 2q37

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about 2Q37 MICRODELETION SYNDROME

Low match GENITOPATELLAR SYNDROME


Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency.

GENITOPATELLAR SYNDROME Is also known as absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome|absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GENITOPATELLAR SYNDROME

Low match SMITH-MAGENIS SYNDROME; SMS


SMITH-MAGENIS SYNDROME; SMS Is also known as chromosome 17p11.2 deletion syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SMITH-MAGENIS SYNDROME; SMS

Top 5 symptoms//phenotypes associated to Brachydactyly and Stereotypy

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

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

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Delayed speech and language development

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape

Common Symptoms - More than 50% cases


Feeding difficulties

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment

Common Symptoms - More than 50% cases


Ventriculomegaly

Uncommon Symptoms - Between 30% and 50% cases


Anteverted nares

Common Symptoms - More than 50% cases


Clinodactyly of the 5th finger

Uncommon Symptoms - Between 30% and 50% cases


Midface retrusion

Common Symptoms - More than 50% cases


Short nose

Uncommon Symptoms - Between 30% and 50% cases


Aggressive behavior

Common Symptoms - More than 50% cases


Hyperactivity

Uncommon Symptoms - Between 30% and 50% cases


Upslanted palpebral fissure

Common Symptoms - More than 50% cases


Gastroesophageal reflux

Uncommon Symptoms - Between 30% and 50% cases


Depressed nasal bridge

Common Symptoms - More than 50% cases


Muscular hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Growth delay Brachycephaly Scoliosis Short philtrum Attention deficit hyperactivity disorder Micrognathia Autistic behavior Deeply set eye Cleft palate Frontal bossing Autism Abnormality of cardiovascular system morphology Downslanted palpebral fissures Constipation Strabismus Behavioral abnormality Tented upper lip vermilion Intellectual disability, severe Talipes equinovarus Synophrys Hernia Mandibular prognathia Ventricular septal defect Epicanthus Cryptorchidism Failure to thrive Single transverse palmar crease Hypothyroidism Prominent forehead Anxiety Hypoplasia of the corpus callosum Low-set ears Absent speech High forehead Self-injurious behavior EEG abnormality Sleep disturbance Obesity Delayed eruption of teeth Downturned corners of mouth Conductive hearing impairment Coarse facial features Small hand Sensorineural hearing impairment Short palm Poor speech Thick vermilion border Abnormal heart morphology Malar flattening Narrow forehead Drooling Laryngomalacia Protruding tongue Tetralogy of Fallot High palate Obsessive-compulsive behavior Wide nose Hyporeflexia Sparse scalp hair Broad nasal tip Pes planus Hydronephrosis Clinodactyly Motor delay Heterotopia Toe syndactyly Cerebral cortical atrophy Broad-based gait Open mouth Broad forehead Short foot

Rare Symptoms - Less than 30% cases


Overweight Chronic otitis media Generalized myoclonic seizures Macrotia Impaired pain sensation Abnormality of the genitourinary system Broad face Posteriorly rotated ears Hyperacusis Abnormal tracheobronchial morphology Neurological speech impairment Hoarse voice Abnormality of the pinna Apnea Narrow palpebral fissure Short chin Absence seizures Hypercholesterolemia Velopharyngeal insufficiency Hypertriglyceridemia Myopia Full cheeks Abnormality of the kidney Polyhydramnios Peripheral neuropathy Sparse hair Wide nasal bridge Everted lower lip vermilion Thin upper lip vermilion Kyphoscoliosis Decreased fetal movement Long philtrum Atrial septal defect Intrauterine growth retardation Feeding difficulties in infancy Delayed puberty Edema Retinal detachment Arrhythmia Microcornea Plagiocephaly Hypospadias Infantile spasms Highly arched eyebrow Impulsivity Pyloric stenosis Inguinal hernia Tracheomalacia Finger clinodactyly Self-mutilation Abnormal renal morphology Periventricular leukomalacia Macroglossia Low-set, posteriorly rotated ears Supernumerary nipple Underdeveloped nasal alae Round face Esotropia Thin vermilion border Prominent nasal bridge Agenesis of corpus callosum Self-biting Micropenis Multicystic kidney dysplasia Ataxia Precocious puberty Pain Severe global developmental delay Short phalanx of finger Poor eye contact Arthrogryposis multiplex congenita Ectodermal dysplasia Umbilical hernia Patent ductus arteriosus Morphological abnormality of the middle ear Hydrocephalus Macrocephaly Abnormality of upper lip Cognitive impairment Short neck Pulmonary hypoplasia Talipes Abnormality of the skeletal system Osteoporosis Dysphagia Midline brain calcifications Renal neoplasm Head-banging Bilateral single transverse palmar creases Aortic valve stenosis Short toe Sparse and thin eyebrow Abnormality of the forearm Nephroblastoma Mild short stature Congenital diaphragmatic hernia Eczema Low hanging columella Subvalvular aortic stenosis Blepharophimosis Wide intermamillary distance Short metacarpal Frequent temper tantrums Broad columella Abnormal aortic morphology Pain insensitivity Flexion contracture Joint hyperflexibility Finger syndactyly Short metatarsal Scarring Prominent nose Abnormality of the thyroid gland Fine hair Lethargy Thick upper lip vermilion Abnormality of the larynx Falls Deep palmar crease Oral cleft Paresthesia Dry skin Microtia Duodenal atresia Paralysis Hyperlordosis Cleft lip Cavum septum pellucidum Recurrent ear infections Intellectual disability, moderate Tracheobronchomalacia Pes cavus Nephropathy Bruxism Excessive daytime sleepiness Sinusitis Poor suck Progressive spastic paraplegia Abnormality of the urinary system Sacral dimple Abnormality of the outer ear Lissencephaly Increased body weight Abnormal vertebral morphology Abnormality of the immune system Short attention span Hypoplasia of dental enamel Pachygyria Omphalocele Abnormality of the cardiovascular system Otitis media Broad palm Drowsiness Chronic constipation Everted upper lip vermilion Areflexia Pelvic kidney Bilateral talipes equinovarus Hypoplastic labia majora Short columella Patellar dislocation Hip contracture Anteriorly placed anus Open bite Ectopic kidney Clitoral hypertrophy Hypoplastic ilia Radioulnar synostosis Mood changes Scrotal hypoplasia Premature atrial contractions Intellectual disability, progressive Knee flexion contracture Congenital hip dislocation Recurrent urinary tract infections Beaking of vertebral bodies Patellar aplasia Abnormality of metabolism/homeostasis Tongue thrusting Abnormality of the dentition Cataract Hypoplastic inferior pubic rami Scrotal hypospadias Recurrent aspiration pneumonia Enlarged labia minora Absent scrotum Small scrotum Abnormal bone structure Labial hypoplasia Periventricular gray matter heterotopia Talipes calcaneovalgus Clitoral hypoplasia Hypoplastic ischia Calcaneovalgus deformity Primary hypothyroidism Patellar hypoplasia Colpocephaly Neoplasm Testicular torsion Exaggerated cupid's bow Ptosis Long nose Abnormality of the musculature Shawl scrotum Central hypothyroidism Hypogonadism Joint hypermobility Unilateral renal agenesis 2-3 toe syndactyly Neurodevelopmental delay Gonadal dysgenesis Echolalia Abnormality of brain morphology Severe expressive language delay Severe receptive language delay Smooth philtrum Postnatal microcephaly Hypoplastic left heart Anomalous pulmonary venous return Abdominal situs inversus Dyslexia Double outlet right ventricle Abnormality of immune system physiology Transposition of the great arteries Stridor Gastrointestinal hemorrhage Nasal speech Sleep apnea Narrow face Situs inversus totalis Depressed nasal ridge Specific learning disability Coarse hair Tetraparesis Interrupted aortic arch Inability to walk Cupped ear Optic nerve hypoplasia Epileptic encephalopathy Convex nasal ridge Febrile seizures Iris coloboma Thick eyebrow Large earlobe Generalized tonic-clonic seizures Coloboma Protruding ear Myoclonus Encephalopathy Dilatation Abnormality of the periventricular white matter Agenesis of cerebellar vermis Status epilepticus Neonatal hypotonia Hypsarrhythmia Nephrotic syndrome Generalized-onset seizure Urinary incontinence Postnatal growth retardation Muscular hypotonia of the trunk Gait ataxia Abnormal corpus callosum morphology Spasticity Periventricular white matter hyperdensities Frontal cortical atrophy Hemiclonic seizures Happy demeanor Abnormality of nervous system morphology Heterotaxy Abnormality of the pharynx Conotruncal defect Renal cyst Taurodontia Abnormal localization of kidney Large face Delayed eruption of primary teeth Corticospinal tract hypoplasia Renal insufficiency Recurrent respiratory infections Dyspnea Developmental regression Abnormal cardiac septum morphology Abnormality of the cerebral white matter Pulmonic stenosis Facial asymmetry Flat face Vesicoureteral reflux Hand polydactyly Pulmonary artery stenosis U-Shaped upper lip vermilion Bronchomalacia Persistence of primary teeth Abnormal myelination Advanced eruption of teeth Thickened helices Natal tooth Limitation of joint mobility Bowel incontinence Apathy Bicuspid aortic valve Psychosis Coarctation of aorta Hypoplasia of penis Abnormality of the ureter Failure to thrive in infancy Total anomalous pulmonary venous return Bilateral trilobed lungs Tapered finger High, narrow palate Short distal phalanx of finger Wide mouth Retrognathia Pectus excavatum Subependymal cysts Dandy-Walker malformation Aplasia/Hypoplasia of the thymus Displacement of the external urethral meatus Persistent left superior vena cava Common atrium Anterior creases of earlobe Urethral stenosis Hip dysplasia Small nail Renal hypoplasia/aplasia Tics Aplasia/Hypoplasia of the corpus callosum Abnormal form of the vertebral bodies Cleft upper lip Joint stiffness Gait disturbance Diaphragmatic eventration Large forehead Thick lower lip vermilion High anterior hairline Arachnoid cyst Short middle phalanx of finger Abnormality of the hand Deep philtrum Wormian bones Sleep-wake inversion



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