Frontal bossing, and Atrial septal defect

Diseases related with Frontal bossing and Atrial septal defect

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


Top matches:

High match ULNAR/FIBULA RAY DEFECT-BRACHYDACTYLY SYNDROME


Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism.

ULNAR/FIBULA RAY DEFECT-BRACHYDACTYLY SYNDROME Is also known as morava-mehes syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Brachydactyly
  • Frontal bossing
  • Talipes equinovarus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ULNAR/FIBULA RAY DEFECT-BRACHYDACTYLY SYNDROME

High match AICA-RIBOSIDURIA


AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness.

AICA-RIBOSIDURIA Is also known as aica-ribosuria due to atic deficiency|5-amino-4-imidazole carboxamide ribosiduria|atic deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AICA-RIBOSIDURIA

High match HYPERMETHIONINEMIA ENCEPHALOPATHY DUE TO ADENOSINE KINASE DEFICIENCY


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

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Other less relevant matches:

High match NOONAN SYNDROME 3; NS3


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

High match EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2


The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by Muller et al., 2013).For a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Muscle weakness
  • Abnormal facial shape
  • Pain


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2

High match 1Q21.1 MICRODUPLICATION SYNDROME


1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.

1Q21.1 MICRODUPLICATION SYNDROME Is also known as trisomy 1q21.1|dup(1)(q21.1)

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1Q21.1 MICRODUPLICATION SYNDROME

High match THANATOPHORIC DYSPLASIA TYPE 1


Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly.

THANATOPHORIC DYSPLASIA TYPE 1 Is also known as thanatophoric dwarfism type 1|td1

Related symptoms:

  • Seizures
  • Hearing impairment
  • Muscular hypotonia
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about THANATOPHORIC DYSPLASIA TYPE 1

High match THANATOPHORIC DYSPLASIA TYPE 2


Thanatophoric dysplasia, type 2 (TD2) is a form of TD (see this term) characterized by micromelia, straight long-bones, macrocephaly, brachydactyly, shortened ribs and a clover-leaf skull (kleeblattschaedel).

THANATOPHORIC DYSPLASIA TYPE 2 Is also known as thanatophoric dwarfism type 2|cloverleaf skull-micromelic bone dysplasia syndrome|thanatophoric dysplasia with kleeblattschaedel|thanatophoric dysplasia with straight femurs and cloverleaf skull|td2|cloverleaf skull with thanatophoric dwarfism|thanatophor

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Muscular hypotonia
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about THANATOPHORIC DYSPLASIA TYPE 2

High match ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3


The clinical description of Robinow syndrome includes mesomelia, normal intellect, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge, which are collectively referred to as a 'fetal face' (summary by White et al., 2016).For a discussion of genetic heterogeneity in Robinow syndrome, see RRS (OMIM ).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3

High match MEGALENCEPHALY-POLYMICROGYRIA-POSTAXIAL POLYDACTYLY-HYDROCEPHALUS SYNDROME


Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic.

MEGALENCEPHALY-POLYMICROGYRIA-POSTAXIAL POLYDACTYLY-HYDROCEPHALUS SYNDROME Is also known as meg-pmg-megacc syndrome|mpph syndrome|megalencephaly, polymicrogyria, mega corpus callosum syndrome|mpph|megalencephaly, mega corpus callosum, and complete lack of motor development

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MEGALENCEPHALY-POLYMICROGYRIA-POSTAXIAL POLYDACTYLY-HYDROCEPHALUS SYNDROME

Top 5 symptoms//phenotypes associated to Frontal bossing and Atrial septal defect

Symptoms // Phenotype % cases
Macrocephaly Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Kyphosis Generalized hypotonia Muscular hypotonia Hydrocephalus Patent ductus arteriosus Depressed nasal bridge Hearing impairment Brachydactyly Abnormal facial shape Intellectual disability Anteverted nares Ventricular septal defect Intellectual disability, profound Low-set ears Polyhydramnios Talipes equinovarus Proptosis Midface retrusion Telecanthus Prominent forehead Ventriculomegaly

Rare Symptoms - Less than 30% cases


Short nose Increased nuchal translucency Aplasia/Hypoplasia of the lungs Short femur Hypoplastic ilia Cloverleaf skull Mitral regurgitation Long philtrum Blue sclerae Strabismus Short sacroiliac notch Lethal short-limbed short stature Narrow mouth Ptosis Cognitive impairment High palate Epicanthus Downslanted palpebral fissures Mitral valve prolapse Pulmonic stenosis Webbed neck Patent foramen ovale Muscle weakness Redundant skin Abnormality of the metaphysis Respiratory insufficiency Bilateral talipes equinovarus Skeletal dysplasia Abnormality of the kidney Platyspondyly Narrow chest Flat face Intellectual disability, severe Blindness Brachycephaly Micromelia Hypoplasia of the corpus callosum Failure to thrive Cerebral atrophy Skeletal muscle atrophy Acanthosis nigricans Motor delay Cryptorchidism Scoliosis Bowing of the long bones Metaphyseal irregularity Constrictive median neuropathy Disproportionate short-limb short stature Holoprosencephaly Short ribs Encephalocele Split hand Abnormality of neuronal migration Femoral bowing Decreased fetal movement Limitation of joint mobility Heterotopia Severe short stature Joint stiffness Wide anterior fontanel Excessive wrinkled skin Abnormality of the sacroiliac joint Joint hyperflexibility Downturned corners of mouth Flared metaphysis Cortical dysplasia Polydactyly High forehead Muscular hypotonia of the trunk Abnormal cardiac septum morphology Polymicrogyria Postaxial polydactyly Postaxial hand polydactyly Pachygyria Knee flexion contracture Large for gestational age Infantile spasms Visual impairment Long palpebral fissure Thoracic scoliosis Megalencephaly Abnormally large globe Dilation of lateral ventricles Abnormal localization of kidney Cavum septum pellucidum Abnormal nasal morphology Capillary malformation Vascular ring Absent speech Hypoplastic right heart Short thorax Clinodactyly Occipital encephalocele Small face Severe short-limb dwarfism Small foramen magnum Small abnormally formed scapulae Wide-cupped costochondral junctions Micrognathia Cleft palate Wide nasal bridge Short neck Upslanted palpebral fissure Pulmonary artery atresia Cleft lip Schizophrenia Dental malocclusion Broad thumb Long eyelashes Short phalanx of finger Gingival overgrowth Tricuspid regurgitation Mesomelia Agenesis of permanent teeth Anteriorly placed anus Relative macrocephaly Hypoplasia of the musculature Hallucinations Hypermethioninemia Poor speech Hepatic steatosis Coarctation of aorta Cholestasis Progressive muscle weakness Decreased liver function Hyperbilirubinemia Secundum atrial septal defect Portal fibrosis Narrow foot Delayed speech and language development Pectus excavatum Posteriorly rotated ears Hypertrophic cardiomyopathy Craniosynostosis Leukemia Dolichocephaly Deep philtrum Pterygium Cystic hygroma Elevated hepatic transaminase Sensorineural hearing impairment Sagittal craniosynostosis Aplasia/Hypoplasia of the fibula Malar flattening Toe syndactyly Short foot Round face Hemangioma Fibular hypoplasia Short 5th finger Lower limb asymmetry Aplasia/Hypoplasia of the ulna Postaxial oligodactyly Fused labia minora Unilateral ulnar hypoplasia Optic atrophy Abnormality of metabolism/homeostasis Thin upper lip vermilion Wide mouth Prominent nasal bridge Abnormality of the skin Clitoral hypertrophy Congenital blindness Scaphocephaly Myeloproliferative disorder Tetralogy of Fallot Glaucoma Growth delay Microcephaly Cataract Spasticity Hypertonia Behavioral abnormality Intellectual disability, mild Hypospadias Hyperactivity Autism Fragile skin Gastroesophageal reflux Anxiety Intellectual disability, moderate Autistic behavior Attention deficit hyperactivity disorder Hip dislocation Arthrogryposis multiplex congenita Hip dysplasia Specific learning disability Facial hypotonia Hyperextensible skin Hypoplastic nasal bridge Camptodactyly Juvenile myelomonocytic leukemia Atrial septal dilatation Dysplastic pulmonary valve Pain Myopathy Hernia Inguinal hernia Arthralgia Myalgia Protruding ear Adducted thumb Scarring Talipes Arachnodactyly Joint hypermobility Bruising susceptibility Generalized muscle weakness Dental crowding Joint dislocation Delayed gross motor development Thick corpus callosum



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