Abnormal facial shape, and Attention deficit hyperactivity disorder

Diseases related with Abnormal facial shape and Attention deficit hyperactivity disorder

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


Top matches:

Medium match SYNDACTYLY TYPE 8


Syndactyly type 8 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral or bilateral fusion of the fourth and fifth metacarpals with no other associated abnomalities. Patients present shortened fourth and fifth metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the fifth finger in parallel with the other fingers.

SYNDACTYLY TYPE 8 Is also known as fusion of metacarpals 4 and 5

Related symptoms:

  • Syndactyly
  • Hernia
  • Inguinal hernia
  • Upslanted palpebral fissure
  • Hyperactivity


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SYNDACTYLY TYPE 8

Medium match EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD


Focal epilepsy with speech disorder is a childhood-onset seizure disorder with a highly variable phenotype. Seizures typically occur in the temporal lobe, or rolandic brain region, which affects speech and language, and electroencephalogram (EEG) characteristically shows centrotemporal spike-wave discharges. EEG abnormalities often occur during sleep and may manifest as continuous spike-wave discharges during slow-wave sleep (CSWS or CSWSS). FESD represents an electroclinical spectrum that ranges from severe early-onset seizures associated with delayed psychomotor development, persistent speech difficulties, and mental retardation to a more benign entity characterized by childhood onset of mild or asymptomatic seizures associated with transient speech difficulties followed by remission of seizures in adolescence and normal psychomotor development. There is incomplete penetrance and intrafamilial variability, even among family members who carry the same GRIN2A mutation (summary by Lesca et al., 2013; Lemke et al., 2013; Carvill et al., 2013).The disorder represented here encompasses several clinical entities, including Landau-Kleffner syndrome (LKS), epileptic encephalopathy with continuous spike and wave during slow-wave sleep (ECSWS; CSWSS), autosomal dominant rolandic epilepsy, mental retardation, and speech dyspraxia (ADRESD; RESDAD), and benign epilepsy with centrotemporal spikes (BECTS; see {117100}). LKS is classically described as a childhood-onset variant of epileptic aphasia. It is associated with EEG abnormalities occurring in the temporal lobe of the language-dominant hemisphere, even in the absence of overt clinical seizures. LKS is sometimes referred to as an 'acquired aphasia' because most affected children show normal psychomotor development until the onset of seizures, usually between 3 and 7 years, although some may have prior delayed development. A hallmark of the disorder is severe impairment in auditory language comprehension and speech. Some patients may also have persistent intellectual disability or behavioral abnormalities reminiscent of autism or attention deficit-hyperactivity disorder. EEG abnormalities typically include centrotemporal spikes suggestive of rolandic epilepsy or continuous spike and waves during slow-wave sleep. The presence of CSWS is associated with more widespread behavioral and cognitive regression than LKS, although the 2 disorders may be considered part of a spectrum. There is controversy about the precise definition of LKS and its relationship to CSWS that stems mainly from the phenotypic heterogeneity of the disorder (summary by Stefanatos, 2011).

EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD Is also known as aphasia, acquired, with epilepsy

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD

Medium match INTELLECTUAL DISABILITY-EXPRESSIVE APHASIA-FACIAL DYSMORPHISM SYNDROME


INTELLECTUAL DISABILITY-EXPRESSIVE APHASIA-FACIAL DYSMORPHISM SYNDROME Is also known as intellectual disability-loss of expressive language-facial dysmorphism syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Ptosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-EXPRESSIVE APHASIA-FACIAL DYSMORPHISM SYNDROME

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Other less relevant matches:

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 43; MRD43


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 43; MRD43

Medium match DISTAL 16P11.2 MICRODELETION SYNDROME


Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated.

DISTAL 16P11.2 MICRODELETION SYNDROME Is also known as distal monosomy 16p11.2|distal del(16)(p11.2)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Delayed speech and language development
  • Kyphosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about DISTAL 16P11.2 MICRODELETION SYNDROME

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 X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME


X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.

X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME Is also known as oligophrenin-1 syndrome|ophn1 syndrome|mental retardation, x-linked 60, formerly|mrx60, formerly

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME

Medium match FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY-BEHAVIORAL ABNORMALITIES SYNDROME DUE TO WAC POINT MUTATION


DeSanto-Shinawi syndrome is a rare neurodevelopmental disorder characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes. Most patients also have gastrointestinal and mild ocular abnormalities, as well as behavioral problems (summary by DeSanto et al., 2015).

FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY-BEHAVIORAL ABNORMALITIES SYNDROME DUE TO WAC POINT MUTATION Is also known as developmental delay, behavioral abnormalities, facial dysmorphism, and ocular abnormalities

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY-BEHAVIORAL ABNORMALITIES SYNDROME DUE TO WAC POINT MUTATION

Medium match MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB


MRXSB is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with behavioral abnormalities, and dysmorphic facial features. Additional variable features include musculoskeletal abnormalities, seizures, acquired microcephaly, and feeding problems with poor overall growth. Only females are affected (summary by Bain et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB

Medium match LEGIUS SYNDROME


Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple café-au-lait macules with or without axillary or inguinal freckling.

LEGIUS SYNDROME Is also known as nfls|neurofibromatosis type 1-like syndrome|nf1-like syndrome|neurofibromatosis 1-like syndrome

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Neoplasm
  • Micrognathia
  • Abnormal facial shape


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LEGIUS SYNDROME

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Attention deficit hyperactivity disorder

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

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

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Delayed speech and language development

Common Symptoms - More than 50% cases


Thin upper lip vermilion

Uncommon Symptoms - Between 30% and 50% cases


Autistic behavior Behavioral abnormality Constipation Hypertelorism Anxiety Feeding difficulties Absent speech Triangular face Spasticity Microcephaly Ataxia Gastroesophageal reflux High palate Strabismus

Rare Symptoms - Less than 30% cases


Downslanted palpebral fissures Hypotelorism Hernia Motor delay Low-set ears Ptosis Brachycephaly Long face Synophrys Macrocephaly Cafe-au-lait spot Neonatal hypotonia Anteverted nares Epicanthus Hypoplasia of the corpus callosum Aggressive behavior Narrow mouth Short neck Prominent nasal bridge Poor speech Micrognathia Short philtrum Abnormal cerebellum morphology Intellectual disability, severe EEG abnormality Wide mouth Cognitive impairment Intellectual disability, moderate Broad forehead Developmental regression Neurological speech impairment Low-set, posteriorly rotated ears Posteriorly rotated ears Prominent forehead Gait ataxia Focal-onset seizure Myopia Obsessive-compulsive behavior Deeply set eye Short stature Hyperlordosis Abnormality of the philtrum Cerebral cortical atrophy Cerebellar hypoplasia Microphallus Dilatation Ventriculomegaly Frontal bossing Retrocerebellar cyst External genital hypoplasia Enlarged cisterna magna Poor eye contact Long nose Prominent nose Focal impaired awareness seizure Prominent supraorbital ridges Micropenis Mandibular prognathia Macrotia Scrotal hypoplasia Intention tremor Cerebellar vermis hypoplasia Disorganization of the anterior cerebellar vermis Dysmetria Infra-orbital crease Syndactyly Hearing impairment High, narrow palate Short palpebral fissure Thick lower lip vermilion Postnatal microcephaly Stereotypy Self-injurious behavior Neoplasm Abnormality of skin pigmentation Specific learning disability Thick vermilion border Low posterior hairline Neurofibromas Multiple lipomas Abnormality of the sternum Freckling Multiple cafe-au-lait spots Neoplasm of the lung Lisch nodules Underdeveloped nasal alae Pectus carinatum Sensorineural hearing impairment Downturned corners of mouth Depressed nasal bridge Midface retrusion Coarse facial features Abnormality of the pinna Astigmatism Bulbous nose Thick eyebrow Hirsutism Sleep disturbance Joint laxity Full cheeks Agitation Inverted nipples Scoliosis Failure to thrive Gait disturbance Hypertonia Pes planus Tremor Low anterior hairline Cryptorchidism Perisylvian polymicrogyria Dysdiadochokinesis Language impairment Dysphasia Aphasia Epileptic spasms Speech apraxia Agnosia Status epilepticus Oromotor apraxia EEG with centrotemporal focal spike waves Continuous spike and waves during slow sleep Intellectual disability, mild Dolichocephaly Dental crowding Pointed chin Hemiparesis Apraxia Muscle weakness Fused fourth and fifth metacarpals Inguinal hernia Upslanted palpebral fissure Toe syndactyly Split hand Sandal gap Ectrodactyly Hydrocele testis Dysarthria Generalized-onset seizure Encephalopathy Polymicrogyria Generalized myoclonic seizures Progressive cerebellar ataxia Urinary incontinence Febrile seizures Epileptic encephalopathy Narrow palate Wide nasal bridge Muscular hypotonia Fever Chronic kidney disease Hyperuricemia Chronic constipation Oval face Moderate receptive language delay Pain Brachydactyly Atrial septal defect Renal agenesis Vomiting Hypermetropia Small hand Short foot Small nail Broad-based gait Nystagmus Aganglionic megacolon Migraine Dystonia Impulsivity Cerebral atrophy High forehead Umbilical hernia Wide nose Tapered finger Hip dysplasia Short chin Kyphosis Vesicoureteral reflux Headache Obesity Rod-cone dystrophy Proteinuria Abnormality of the kidney Arachnodactyly Retinal dystrophy Axillary freckling



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