Brachydactyly, and Attention deficit hyperactivity disorder

Diseases related with Brachydactyly and Attention deficit hyperactivity disorder

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


Top matches:

Medium match INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP


IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by Jansen et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP

Medium match OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME; OCNDS


Okur-Chung neurodevelopmental syndrome is an autosomal dominant disorder characterized by delayed psychomotor development, intellectual disability with poor speech, behavioral abnormalities, cortical malformations in some patients, and variable dysmorphic facial features. Additional features, including microcephaly, gastrointestinal problems, and low levels of immunoglobulins, may be observed in some patients (Okur et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME; OCNDS

Medium match CORNELIA DE LANGE SYNDROME 4; CDLS4


Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Cleft palate
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 4; CDLS4

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Other less relevant matches:

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 57; MRD57


MRD57 is an autosomal dominant neurodevelopmental disorder with a highly variable phenotype. Most affected individuals have delayed psychomotor development apparent in infancy or early childhood, language delay, and behavioral abnormalities. Additional features may include hypotonia, feeding problems, gastrointestinal issues, and dysmorphic facial features (summary by Reijnders et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 57; MRD57

Medium match ADAMS-OLIVER SYNDROME 5; AOS5


Adams-Oliver syndrome (AOS) is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrently seen. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Muscle weakness
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 5; AOS5

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 MICROGNATHIA-RECURRENT INFECTIONS-BEHAVIORAL ABNORMALITIES-MILD INTELLECTUAL DISABILITY SYNDROME


Autosomal dominant mental retardation-44 is characterized by mildly delayed global development, resulting in variable intellectual deficits or learning difficulties, distinctive facial features, and abnormalities of the fingers, particularly brachydactyly, tapering fingers, and broad interphalangeal joints. Most patients also have microcephaly; additional features are highly variable (summary by Ba et al., 2016).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROGNATHIA-RECURRENT INFECTIONS-BEHAVIORAL ABNORMALITIES-MILD INTELLECTUAL DISABILITY 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

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 X-LINKED INTELLECTUAL DISABILITY-GLOBAL DEVELOPMENT DELAY-FACIAL DYSMORPHISM-SACRAL CAUDAL REMNANT SYNDROME


X-linked syndromic mental retardation-33 is an X-linked recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, and characteristic facial features (summary by O'Rawe et al., 2015).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-GLOBAL DEVELOPMENT DELAY-FACIAL DYSMORPHISM-SACRAL CAUDAL REMNANT SYNDROME

Top 5 symptoms//phenotypes associated to Brachydactyly and Attention deficit hyperactivity disorder

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Thin upper lip vermilion Common - Between 50% and 80% cases
Hyperactivity Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Brachydactyly and Attention deficit hyperactivity disorder. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia

Common Symptoms - More than 50% cases


Feeding difficulties

Uncommon Symptoms - Between 30% and 50% cases


Delayed speech and language development Anteverted nares High palate Low-set ears Short stature Upslanted palpebral fissure Abnormal facial shape Autistic behavior Obsessive-compulsive behavior Strabismus Scoliosis Autism Constipation Behavioral abnormality Hypertelorism Synophrys Joint hypermobility Epicanthus Dysphagia Clinodactyly Growth delay Pectus excavatum Short nose Long face Thick eyebrow Protruding ear Macrotia Motor delay Ptosis Kyphosis Downslanted palpebral fissures High forehead Long philtrum Micrognathia Anxiety Gastroesophageal reflux Broad forehead Myopia

Rare Symptoms - Less than 30% cases


Atrial septal defect Deeply set eye Flexion contracture Abnormality of the skeletal system Dilatation Pes planus Hypoplasia of the corpus callosum Ventriculomegaly Prominent nasal bridge Muscular hypotonia Broad nasal tip Cutis marmorata Hearing impairment Pointed chin Schizophrenia Ventricular septal defect Intrauterine growth retardation Encephalopathy Abnormal cardiac septum morphology Prominent forehead Aplasia cutis congenita Spastic diplegia Hip dysplasia Slender finger Posteriorly rotated ears Short philtrum Short foot Cleft palate Aggressive behavior Syndactyly Poor speech Small nail Absent speech Open mouth Broad-based gait Wide nasal bridge Short chin Dental crowding Ataxia Highly arched eyebrow Joint laxity Abnormal corpus callosum morphology Bipolar affective disorder Cognitive impairment Abnormality of the dentition Macrocephaly Frontal bossing Hyperacusis Intellectual disability, mild Agenesis of corpus callosum Brachycephaly Camptodactyly of finger Neurological speech impairment Joint hyperflexibility Aplasia of the 1st metacarpal Hyperreflexia Obsessive-compulsive trait Recurrent infections Short phalanx of finger Hemiclonic seizures Frontal cortical atrophy Abnormality of the hand Syncope Hypodontia Periventricular white matter hyperdensities Tapered finger 2-3 toe syndactyly Absent radius Mild global developmental delay Hypoplasia of the maxilla Thick vermilion border Happy demeanor Ventricular extrasystoles Short distal phalanx of finger Facial asymmetry Gait ataxia Abnormality of nervous system morphology Abnormality of finger Low anterior hairline Arachnodactyly Tremor Psychosis Oral-pharyngeal dysphagia Sparse hair Abnormality of eye movement Bulbous nose Hirsutism High, narrow palate Eczema Cerebellar vermis hypoplasia Microretrognathia Reduced tendon reflexes Sacral dimple Delayed gross motor development Prominent supraorbital ridges Chronic otitis media Flat occiput Osteopenia Depressed nasal tip Gait imbalance Thickened helices Nasolacrimal duct obstruction Toenail dysplasia Short digit Sleep-wake cycle disturbance Caesarian section Prominent coccyx Thickened ears Broad chin Prominent protruding coccyx Talipes cavus equinovarus Postnatal growth retardation Proptosis Broad thumb Aortic root aneurysm Anorexia Hallucinations Narrow face Aplasia/Hypoplasia of the corpus callosum Abnormality of the genitourinary system Deep philtrum Nasal speech Abnormality of the voice Aortic aneurysm Emotional lability Disproportionate tall stature Long nose Narrow nasal bridge Macroorchidism Cerebellar hypoplasia Abnormality of the rib cage Impaired social interactions Ascending tubular aorta aneurysm Velopharyngeal insufficiency Low frustration tolerance Oppositional defiant disorder Cat cry Abnormally folded helix Nystagmus Agenesis of cerebellar vermis Short neck Cerebellar atrophy Dystonia Periventricular leukomalacia Calcinosis cutis Large earlobe Hoarse voice Diarrhea Midface retrusion Narrow mouth Telecanthus Craniosynostosis Blepharophimosis Microtia Otitis media Hypertrichosis Recurrent otitis media Toe walking Vertebral clefting Hyperventilation Microtia, first degree Tall chin Muscle weakness Hypertension Myopathy Congestive heart failure Splenomegaly Hernia Abnormal heart morphology Inguinal hernia Prominent eyelashes Exostoses Proximal muscle weakness Cortical gyral simplification Pain Fever Vomiting Low-set, posteriorly rotated ears Hyperlordosis Wide mouth Hypermetropia Small hand Failure to thrive Decreased antibody level in blood Pachygyria Atonic seizures Submucous cleft hard palate IgA deficiency Protruding tongue IgG deficiency Clinodactyly of the 5th finger Pectus carinatum Smooth philtrum Intestinal malrotation Hemivertebrae Finger clinodactyly Radioulnar synostosis Short femoral neck Umbilical hernia Stroke Abnormality of the periventricular white matter Generalized myoclonic seizures Depressed nasal bridge Intellectual disability, severe Myoclonus EEG abnormality Coloboma Generalized tonic-clonic seizures Toe syndactyly Inability to walk Iris coloboma Downturned corners of mouth Everted lower lip vermilion Febrile seizures Chronic hepatic failure Convex nasal ridge Epileptic encephalopathy Heterotopia Stereotypy Absence seizures Plagiocephaly Optic nerve hypoplasia Tented upper lip vermilion Cupped ear Infantile spasms Poor eye contact Right atrial enlargement Cutis marmorata telangiectatica congenita Severe global developmental delay Abnormality of the coagulation cascade Abnormality of the cerebral white matter Pulmonic stenosis Hepatic failure Ascites Coarctation of aorta Pulmonary arterial hypertension Ventricular hypertrophy Hyperammonemia Ischemic stroke Patent foramen ovale Portal hypertension Oligodactyly Prominent scalp veins Progressive proximal muscle weakness Right ventricular hypertrophy Dystrophic toenail Calcinosis Prominent superficial veins Esophageal varix Right ventricular failure Aplasia cutis congenita of scalp Cavernous hemangioma Hypersplenism Portal vein thrombosis Abnormality of the septum pellucidum



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