Macrocephaly, and Atrial septal defect

Diseases related with Macrocephaly and Atrial septal defect

In the following list you will find some of the most common rare diseases related to Macrocephaly and Atrial septal defect that can help you solving undiagnosed cases.

Top matches:

Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomallies (e.g. autistic behavior, sleeping disturbances), urogenital abnormalities (e.g. crytorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects (e.g. ASD, PDA).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME

Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).For a discussion of genetic heterogeneity of autism, see {209850}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hypertelorism
  • Macrocephaly
  • Downslanted palpebral fissures


SOURCES: OMIM MENDELIAN

More info about AUTISM, SUSCEPTIBILITY TO, 18; AUTS18

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about NOONAN SYNDROME 5; NS5

Other less relevant matches:

Hypermethioninemia encephalopathy due to adenosine kinase deficiency is a rare inborn error of metabolism disorder characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement.

HYPERMETHIONINEMIA ENCEPHALOPATHY DUE TO ADENOSINE KINASE DEFICIENCY Is also known as mental retardation, autosomal recessive 8, formerly|adk hypermethioninemia|mrt8, formerly|hypermethioninemia encephalopathy due to adk deficiency

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERMETHIONINEMIA ENCEPHALOPATHY DUE TO ADENOSINE KINASE DEFICIENCY

Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by Niihori et al., 2006). In a phenotypic comparison of BRAF (OMIM )-positive and KRAS-positive individuals with CFC, Niihori et al. (2006) observed that patients with KRAS mutations did not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma, that were present in patients with BRAF mutation.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2

Tatton-Brown-Rahman syndrome is characterized by tall stature, a distinctive facial appearance, and intellectual disability (Tatton-Brown et al., 2014).

TALL STATURE-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME Is also known as dnmt3a-related overgrowth syndrome|tatton-brown-rahman overgrowth syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about TALL STATURE-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME

20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism.

20P12.3 MICRODELETION SYNDROME Is also known as del(20)(p12.3)|monosomy 20p12.3

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about 20P12.3 MICRODELETION SYNDROME

Noonan syndrome is an autosomal dominant dysmorphic syndrome characterized primarily by dysmorphic facial features, cardiac abnormalities, and short stature, among other features (summary by Shah et al., 1999).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ), which is caused by mutations in the PTPN11 gene (OMIM ). Approximately 50% of cases of Noonan syndrome are caused by mutations in PTPN11.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 3; NS3

L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria (see this term) characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy.

L-2-HYDROXYGLUTARIC ACIDURIA Is also known as l-2-hga|l-2-hydroxyglutaric acidemia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about L-2-HYDROXYGLUTARIC ACIDURIA

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about NOONAN SYNDROME 4; NS4

Top 5 symptoms//phenotypes associated to Macrocephaly and Atrial septal defect

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Downslanted palpebral fissures Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Macrocephaly and Atrial septal defect. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Pulmonic stenosis Seizures Low-set ears Ptosis Epicanthus Posteriorly rotated ears Abnormal facial shape Short neck Hypertrophic cardiomyopathy Generalized hypotonia Webbed neck Polyhydramnios Strabismus Anteverted nares Ventricular septal defect

Rare Symptoms - Less than 30% cases

Sparse eyebrow Hearing impairment High palate Delayed speech and language development Frontal bossing Mandibular prognathia Coarse facial features Scoliosis Curly hair Mitral valve prolapse Low-set, posteriorly rotated ears Autistic behavior Tall stature Deep philtrum Depressed nasal bridge Muscular hypotonia Coarctation of aorta Cryptorchidism Patent ductus arteriosus Nystagmus Wolff-Parkinson-White syndrome Growth delay Optic atrophy Motor delay Broad hallux phalanx Intellectual disability, severe Cerebellar atrophy Broad thumb Behavioral abnormality Full cheeks Ataxia Dolichocephaly Dysplastic pulmonary valve Atrial septal dilatation Leukemia Juvenile myelomonocytic leukemia Hypoplastic nasal bridge Thickened helices Myeloproliferative disorder Cognitive impairment Short nose Pectus excavatum Sagittal craniosynostosis Craniosynostosis Scaphocephaly Cystic hygroma Pterygium Tetraparesis Dystonia Dental malocclusion Organic aciduria Morphological abnormality of the pyramidal tract Neoplasm of the nervous system Ependymoma L-2-hydroxyglutaric aciduria L-2-hydroxyglutaric acidemia Severe demyelination of the white matter Wide intermamillary distance Atrophy/Degeneration affecting the brainstem Thick lower lip vermilion Sparse and thin eyebrow Cubitus valgus Bilateral cryptorchidism Abnormality of coagulation Prolonged bleeding time Blue irides High anterior hairline Corpus callosum atrophy Dysphasia Intellectual disability, mild Abnormality of extrapyramidal motor function Myoclonus Gait ataxia Developmental regression Abnormal pyramidal sign Abnormal cerebellum morphology Gliosis Aciduria Neuronal loss in central nervous system Pectus carinatum Global brain atrophy Leukodystrophy Truncal ataxia Horizontal nystagmus Intellectual disability, progressive Spastic tetraparesis Leukoencephalopathy Encephalitis Aplasia/Hypoplasia of the cerebellum Hypoplasia of the maxilla Blepharophimosis Microtia Elevated hepatic transaminase Abnormality of the sternum Failure to thrive Sensorineural hearing impairment Muscle weakness Skeletal muscle atrophy Cerebral atrophy Poor speech Wide mouth Hepatic steatosis Cholestasis Progressive muscle weakness Decreased liver function Hyperbilirubinemia Secundum atrial septal defect Thick vermilion border Prominent forehead Hypermethioninemia Constipation Microcephaly Cleft palate Feeding difficulties Abnormality of the dentition Hypermetropia Thin vermilion border Autism Arrhythmia Pes planus Anxiety Wide nose Sleep disturbance Pointed chin Prominent supraorbital ridges Portal fibrosis Narrow foot Narrow mouth Short columella Thick eyebrow Round face Premature birth Overgrowth Narrow palpebral fissure Long palpebral fissure Maternal diabetes Umbilical hernia Everted upper lip vermilion Premature rupture of membranes Wide nasal bridge Ventriculomegaly Long philtrum Malar flattening Abnormal cardiac septum morphology Hernia Peripheral neuropathy Broad forehead Myopia Cardiomyopathy Hyperkeratosis Proptosis High forehead Sparse hair Peripheral axonal neuropathy Hydrocephalus Ichthyosis Fine hair Hemangioma Bilateral ptosis Absent eyebrow Arthropathy Neuropathic arthropathy Pectus excavatum of inferior sternum


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