Brachydactyly, and Intellectual disability, severe

Diseases related with Brachydactyly and Intellectual disability, severe

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


Top matches:

Medium match JAWAD SYNDROME


Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly wih facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated.

JAWAD SYNDROME Is also known as microcephaly with mental retardation and digital anomalies|kelly syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Cryptorchidism
  • Intellectual disability, severe
  • Syndactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about JAWAD SYNDROME

Medium match CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC; CDG2C


Congenital disorder of glycosylation type IIc (CDG2C) is an autosomal recessive disorder characterized by moderate to severe psychomotor retardation, mild dysmorphism, and impaired neutrophil motility. It is a member of a group of disorders with a defect in the processing of protein-bound glycans. For a general overview of congenital disorders of glycosylation (CDGs), see CDG1A (OMIM ) and CDG2A (OMIM ).The neutrophil defect in CDG2C has been referred to as 'leukocyte adhesion deficiency type II' (LAD2), which is a manifestation of the disorder; there are no cases of 'primary' LAD II (Frydman, 1996).Etzioni and Harlan (1999) provided a comprehensive review of both LAD1 (OMIM ) and LAD2. While the functional neutrophil studies are similar in the 2 LADs, the clinical course is milder in LAD2. Furthermore, patients with LAD2 present other abnormal features, such as growth and mental retardation, which are related to the primary defect in fucose metabolism. Delayed separation of the umbilical cord occurs in LAD1.

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC; CDG2C Is also known as cdgiic|rhs|lad2|cdg iic|rambam-hasharon syndrome|leukocyte adhesion deficiency, type ii

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC; CDG2C

Medium match ALOPECIA-INTELLECTUAL DISABILITY SYNDROME


Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.

ALOPECIA-INTELLECTUAL DISABILITY SYNDROME Is also known as perniola-krajewska-carnevale syndrome|amr syndrome|apmr

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALOPECIA-INTELLECTUAL DISABILITY SYNDROME

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Other less relevant matches:

Medium 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

Medium match WAARDENBURG SYNDROME, TYPE 3; WS3


Waardenburg syndrome type 3 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; presence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi; and upper limb abnormalities (reviews by Read and Newton, 1997 and Pingault et al., 2010). WS type 3 is also referred to as 'Klein-Waardenburg syndrome' (Gorlin et al., 1976). Clinical Variability of Waardenburg Syndrome Types 1-4Waardenburg syndrome has been classified into 4 main phenotypes. Type I Waardenburg syndrome (WS1 ) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type II (WS2) is distinguished from type I by the absence of dystopia canthorum. WS type III has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type IV (WS4 ), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010).

WAARDENBURG SYNDROME, TYPE 3; WS3 Is also known as klein-waardenburg syndrome|waardenburg syndrome, type iii|waardenburg syndrome with upper limb anomalies

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about WAARDENBURG SYNDROME, TYPE 3; WS3

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 SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION


Syndromic X-linked intellectual disability due to JARID1C mutation is characterised by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems. To date, it has been described in less than 15 families. Transmission is X-linked recessive and the syndrome is caused by mutations in the JARID1C (SMCX) gene encoding a JmjC-domain protein with histone demethylase activity.

SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION Is also known as mental retardation, x-linked, syndromic, jarid1c-related|mrxsj

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION

Medium match MONOSOMY 13Q14


Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.

MONOSOMY 13Q14 Is also known as del(13)(q14)|chromosome 13q deletion syndrome|deletion 13q14

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MONOSOMY 13Q14

Medium 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

Top 5 symptoms//phenotypes associated to Brachydactyly and Intellectual disability, severe

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Microcephaly Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Brachydactyly and Intellectual disability, severe. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Growth delay Muscular hypotonia Autism Hypertelorism Low-set ears Cryptorchidism Prominent nasal bridge Global developmental delay Delayed speech and language development Macrotia Strabismus High forehead Absent speech Short foot Thin upper lip vermilion Cleft palate Clinodactyly Mandibular prognathia High palate Micrognathia Ptosis Epicanthus Ventricular septal defect Poor speech Hydronephrosis Intellectual disability, progressive Protruding ear

Rare Symptoms - Less than 30% cases


Stereotypy Coloboma Micropenis Feeding difficulties Smooth philtrum Downslanted palpebral fissures Hypoplasia of the corpus callosum Short nose Thick vermilion border Paraplegia Upslanted palpebral fissure Spastic paraplegia Deeply set eye Camptodactyly of finger Attention deficit hyperactivity disorder Falls Broad forehead Thick eyebrow Iris coloboma Downturned corners of mouth Everted lower lip vermilion Open mouth Abnormality of cardiovascular system morphology Atrial septal defect Bulbous nose Wide nasal bridge Plagiocephaly Failure to thrive Cognitive impairment Depressed nasal bridge Single transverse palmar crease Abnormal heart morphology EEG abnormality Flexion contracture Aggressive behavior Toe syndactyly Obsessive-compulsive behavior Anxiety Scoliosis Laryngomalacia Syndactyly Febrile seizures Subependymal cysts Decreased body weight Aplasia/Hypoplasia of the thymus Broad nasal tip Interphalangeal joint contracture of finger Decreased testicular size Abnormal cardiac septum morphology Craniosynostosis Anterior creases of earlobe Velopharyngeal insufficiency Large hands Low-set, posteriorly rotated ears Lower limb hyperreflexia Urethral stenosis Progressive spastic paraplegia Multiple cafe-au-lait spots Restlessness Facial hypotonia Distal lower limb amyotrophy Intestinal malrotation Common atrium Narrow forehead Hypermetropia Displacement of the external urethral meatus Hyperreflexia Myopia Macrocephaly Talipes equinovarus Pectus excavatum Babinski sign Lacrimal duct stenosis Persistent left superior vena cava Intellectual disability, moderate Chronic lung disease Furrowed tongue Spasticity Preauricular pit Neonatal respiratory distress Short palm Short distal phalanx of finger Microretrognathia High, narrow palate Muscle stiffness Tapered finger Hypoplasia of the maxilla Cerebral visual impairment Abnormal lung morphology Shuffling gait Stridor Diastema Apnea Trigonocephaly Supernumerary nipple Absent septum pellucidum Aplasia/Hypoplasia of the thumb Abnormality of the gastrointestinal tract Thickened helices Retinoblastoma Anteverted ears Leukocoria Double outlet right ventricle Behavioral abnormality Midface retrusion Prominent forehead Abnormality of immune system physiology Deep philtrum Transposition of the great arteries Abnormality of the pinna Neurological speech impairment Wide nose Gastrointestinal hemorrhage Specific learning disability Tetralogy of Fallot Depressed nasal ridge Situs inversus totalis Narrow face Sleep apnea Hypoplastic left heart Abnormality of the genitourinary system Nasal speech Patent foramen ovale Dyslexia Alopecia areata Wide mouth Lower limb hypertonia Low frustration tolerance Small forehead Talipes calcaneovarus Cataract Intrauterine growth retardation Frontal bossing Short neck Long philtrum Microphthalmia Hernia Clinodactyly of the 5th finger Muscular hypotonia of the trunk Finger syndactyly Abdominal situs inversus Hip dislocation Dolichocephaly Total anomalous pulmonary venous return Abnormality of the pharynx Thin vermilion border Webbed neck Hypotelorism Interrupted aortic arch Wide anterior fontanel Finger clinodactyly Holoprosencephaly Abnormal dermatoglyphics Heterotaxy Anomalous pulmonary venous return Neonatal hypotonia Joint contracture of the hand Gastroesophageal reflux Alopecia universalis Reduction of neutrophil motility Intellectual disability, mild Delayed skeletal maturation Alopecia Hyperhidrosis Photophobia Ichthyosis Sparse scalp hair Split hand Hypergonadotropic hypogonadism Aplasia/Hypoplasia of the eyebrow Sparse body hair Abnormal nasal morphology Neutrophilia Abnormality of skeletal morphology Short corpus callosum Motor delay Ventriculomegaly Anteverted nares Dilatation Encephalopathy Myoclonus Hyperactivity Autistic behavior Short philtrum Generalized tonic-clonic seizures Inability to walk Abnormality of the integument Bronchiolitis Convex nasal ridge Absent fourth finger distal interphalangeal crease Polydactyly Retrognathia Prominent nose Sloping forehead Hallux valgus Anonychia Abnormality of digit Thoracic scoliosis Short middle phalanx of the 5th finger Congenital microcephaly 4-5 toe syndactyly Single interphalangeal crease of fifth finger Recurrent infections Widow's peak Abnormality of metabolism/homeostasis Pneumonia Severe short stature Cerebral cortical atrophy Coarse facial features Severe global developmental delay Otitis media Recurrent otitis media Leukocytosis Cellulitis Periodontitis Mild global developmental delay Echolalia Generalized myoclonic seizures Epileptic encephalopathy Posteriorly rotated ears Atelectasis Scapular winging Hypopigmented skin patches Congenital sensorineural hearing impairment Albinism Premature graying of hair Cutaneous finger syndactyly Sprengel anomaly Vitiligo Carpal synostosis Blue irides Heterochromia iridis White hair White forelock Aganglionic megacolon Bronchomalacia Narrow naris Partial albinism Dacryocystitis Poliosis Schizophrenia Bipolar affective disorder Visual impairment Optic atrophy Respiratory distress Abnormality of the dentition Dystonia Patent ductus arteriosus Anorexia Underdeveloped nasal alae Broad-based gait Abnormality of nervous system morphology Heterotopia Short chin Absence seizures Optic nerve hypoplasia Tented upper lip vermilion Cupped ear Infantile spasms Poor eye contact Abnormality of the periventricular white matter Large earlobe Agenesis of cerebellar vermis Periventricular leukomalacia Abnormal corpus callosum morphology Happy demeanor Abdominal distention Hemiclonic seizures Frontal cortical atrophy Periventricular white matter hyperdensities Sensorineural hearing impairment Abnormality of the skeletal system Vomiting Telecanthus Cleft lip Blepharophimosis Arthrogryposis multiplex congenita Synophrys Abnormality of skin pigmentation Hypopigmentation of the skin Bilateral trilobed lungs



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