Ventricular septal defect, and Everted lower lip vermilion

Diseases related with Ventricular septal defect and Everted lower lip vermilion

In the following list you will find some of the most common rare diseases related to Ventricular septal defect and Everted lower lip vermilion that can help you solving undiagnosed cases.


Top matches:

High match 15Q14 MICRODELETION SYNDROME


15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.

15Q14 MICRODELETION SYNDROME Is also known as del(15)(q14)|monosomy 15q14

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 15Q14 MICRODELETION SYNDROME

High match CHAR SYNDROME


Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.

CHAR SYNDROME Is also known as patent ductus arteriosus with facial dysmorphism and abnormal fifth digits

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CHAR SYNDROME

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Other less relevant matches:

High match HEART AND BRAIN MALFORMATION SYNDROME; HBMS


Heart and brain malformation syndrome is a severe autosomal recessive multiple congenital anomaly syndrome characterized by profoundly delayed psychomotor development, dysmorphic facial features, microphthalmia, cardiac malformations, mainly septal defects, and brain malformations, including Dandy-Walker malformation (summary by Shaheen et al., 2016).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about HEART AND BRAIN MALFORMATION SYNDROME; HBMS

High match SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES; SSFSC


Patients with SSFSC have short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies. Distinctive facial features include midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding. Skeletal anomalies include patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray. Congenital heart defects are variably observed and appear to involve primarily the cardiac outflow tract (Tan et al., 2017).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES; SSFSC

Medium match HYPERTELORISM, TEEBI TYPE


Teebi type hypertelorism is a rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia (see this term), such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. Additional findings such as polycystic kidneys and iridochorioretinal colobomas have also been reported and psychomotor development is normal. The facial features can also resemble Aarskog and Opitz G/BBB syndromes (see these terms).

HYPERTELORISM, TEEBI TYPE Is also known as brachycephalofrontonasal dysplasia|craniofrontonasal dysplasia, teebi type|teebi syndrome|teebi hypertelorism syndrome

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertelorism
  • Strabismus
  • Cryptorchidism


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERTELORISM, TEEBI TYPE

Medium match GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME


Goldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability.

GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME Is also known as goldberg-shprintzen megacolon syndrome|goshs|megacolon-microcephaly syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME

Medium match MANDIBULOFACIAL DYSOSTOSIS-MICROCEPHALY SYNDROME


Mandibulofacial dysostosis-microcephaly syndrome is a rare genetic multiple malformation disorder characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism, developmental delay, and intellectual disability.

MANDIBULOFACIAL DYSOSTOSIS-MICROCEPHALY SYNDROME Is also known as mfdm syndrome|growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate|mfdm|mandibulofacial dysostosis, guion-almeida type|mandibulofacial dysostosis with microcephaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MANDIBULOFACIAL DYSOSTOSIS-MICROCEPHALY SYNDROME

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 MGAT2-CDG


MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21).

MGAT2-CDG Is also known as cdg2a|cdgiia|cdg syndrome type iia|congenital disorder of glycosylation type iia|carbohydrate deficient glycoprotein syndrome type iia|n-acetylglucosaminyltransferase 2 deficiency|cdg-iia|alkuraya syndrome|carbohydrate-deficient glycoprotein syndrome, typ

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MGAT2-CDG

Top 5 symptoms//phenotypes associated to Ventricular septal defect and Everted lower lip vermilion

Symptoms // Phenotype % cases
Low-set ears Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Downslanted palpebral fissures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Ventricular septal defect and Everted lower lip vermilion. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape

Common Symptoms - More than 50% cases


Wide nasal bridge

Uncommon Symptoms - Between 30% and 50% cases


Long philtrum Intellectual disability Short neck Seizures Prominent nasal bridge Short nose Hearing impairment Clinodactyly Thick eyebrow Hypertelorism Highly arched eyebrow Anteverted nares Ptosis Depressed nasal bridge Clinodactyly of the 5th finger Bulbous nose Growth delay Thin upper lip vermilion Cleft palate Posteriorly rotated ears Short philtrum Finger clinodactyly Broad forehead Patent ductus arteriosus Delayed speech and language development Abnormality of cardiovascular system morphology Finger syndactyly Atrial septal defect Coloboma Craniosynostosis High forehead Thin vermilion border Cleft lip Deep philtrum Pectus excavatum High palate Abnormal cardiac septum morphology Abnormal heart morphology Brachydactyly Narrow forehead Micrognathia Protruding ear Cryptorchidism Hypoplasia of the corpus callosum

Rare Symptoms - Less than 30% cases


Abnormality of the pinna Camptodactyly Muscular hypotonia of the trunk Short toe Gastroesophageal reflux Trigonocephaly Microphthalmia Prominent forehead Proximal placement of thumb Hypospadias Hydronephrosis Pulmonic stenosis Brachycephaly Wide anterior fontanel Synophrys Intellectual disability, severe Hernia Conductive hearing impairment Osteopenia Open mouth Delayed skeletal maturation Widow's peak Wide mouth Arrhythmia Midface retrusion Frontal bossing Epicanthus Pierre-Robin sequence Iris coloboma Strabismus Telecanthus Muscular hypotonia Pointed chin Malar flattening Convex nasal ridge Sparse hair Oral cleft Low-set, posteriorly rotated ears Thick vermilion border Severe global developmental delay Feeding difficulties Broad nasal tip Macrotia Progressive microcephaly Long eyelashes Scoliosis Bicuspid aortic valve Hypoplasia of the maxilla Abnormality of the dentition Supernumerary nipple Prominent occiput Tracheoesophageal fistula Slender finger Abnormal renal morphology Large earlobe Skin tags Esophageal atresia Abnormality of the antihelix Stenosis of the external auditory canal Aganglionic megacolon Glossoptosis Pachygyria Sparse and thin eyebrow Facial asymmetry Oligodontia Overfolded helix Delayed myelination Choanal atresia Microtia Postnatal microcephaly Preauricular skin tag Abnormality of the outer ear Atresia of the external auditory canal Radioulnar synostosis Feeding difficulties in infancy Upslanted palpebral fissure Absent speech Abnormality of the genitourinary system Respiratory distress Moderate global developmental delay Corneal ulceration Corneal erosion Cupped ear Megalocornea Hypoplasia of the brainstem Preaxial hand polydactyly Bifid scrotum Bifid uvula Sparse eyebrow Thickened helices Mandibulofacial dysostosis Narrow nasal bridge Proteinuria Aggressive behavior Postnatal growth retardation Respiratory tract infection Unsteady gait Hirsutism Bilateral sensorineural hearing impairment Tall stature Stereotypy Gingival overgrowth Coxa valga Intellectual disability, progressive Abnormality of the coagulation cascade Slender long bone Retrognathia Protruding tongue Self-mutilation Low hanging columella Volvulus Abnormality of the rib cage Diastema Macrodontia Thoracolumbar kyphoscoliosis Reduced antithrombin III activity Abnormal isoelectric focusing of serum transferrin Reduced factor IX activity Reduced factor XI activity Reduced factor XII activity Type II transferrin isoform profile Pes planus Kyphoscoliosis Accessory oral frenulum Abnormal dermatoglyphics Prominent glabella Underdeveloped tragus Morphological abnormality of the middle ear Absent tragus Cataract Cognitive impairment Intrauterine growth retardation Micropenis Hip dislocation Dolichocephaly Single transverse palmar crease Webbed neck Hypotelorism Holoprosencephaly Patent foramen ovale Recurrent respiratory infections Absent septum pellucidum Aplasia/Hypoplasia of the thumb Abnormality of the gastrointestinal tract Blue sclerae Retinoblastoma Anteverted ears Leukocoria Failure to thrive Sensorineural hearing impairment Peripheral neuropathy Skeletal muscle atrophy Macrocephaly Diarrhea Hypertonia Sparse scalp hair Umbilical hernia Optic disc pallor Polyhydramnios Triangular mouth Mesoaxial hand polydactyly No permanent dentition Parasomnia Muscular ventricular septal defect Symphalangism of the 5th finger Mesoaxial foot polydactyly Distal/middle symphalangism of 5th finger Visual impairment Hyperreflexia Cerebral atrophy Camptodactyly of finger Short middle phalanx of the 5th finger High, narrow palate Sepsis Brain atrophy Dandy-Walker malformation Interphalangeal joint contracture of finger Cerebellar vermis hypoplasia Thick lower lip vermilion Aplasia/Hypoplasia of the corpus callosum Global brain atrophy Poor eye contact Hyperactive deep tendon reflexes Prominent metopic ridge Persistence of primary teeth Hand polydactyly Interrupted aortic arch Acne Motor delay Kyphosis Immunodeficiency Inguinal hernia Autism Deeply set eye Intellectual disability, moderate Smooth philtrum Long face Tented upper lip vermilion Laryngomalacia Biparietal narrowing Coarse hair Everted upper lip vermilion Myopia Congestive heart failure Intellectual disability, mild Syndactyly Polydactyly Toe syndactyly Sleep disturbance Hypodontia Premature birth Coarctation of aorta Depressed nasal ridge Delayed CNS myelination Hand clenching Sloping forehead Abnormality of the helix Heart murmur Bilateral cryptorchidism Preauricular pit Ectopic kidney High hypermetropia Long palpebral fissure Broad palm Natal tooth Shawl scrotum Sprengel anomaly Lipoma Advanced eruption of teeth Short chin Dimple chin Broad eyebrow Female pseudohermaphroditism Talipes equinovarus Ventriculomegaly Constipation Cerebellar hypoplasia Polymicrogyria Small hand Tapered finger Wide intermamillary distance Specific learning disability Atrioventricular block Omphalocele Abnormality of the skeletal system 11 pairs of ribs Apnea Tachycardia Palpitations Dental crowding Spina bifida occulta Sandal gap Infantile muscular hypotonia Sleep apnea Transposition of the great arteries Proportionate short stature Obstructive sleep apnea Supraventricular tachycardia Wolff-Parkinson-White syndrome Congenital diaphragmatic hernia Spondylolisthesis Short 5th metacarpal Perimembranous ventricular septal defect Anterior open bite Prominent sternum Paroxysmal supraventricular tachycardia Proptosis Joint laxity Hypermetropia Wide nose Round face Tetralogy of Fallot Midfrontal capillary hemangioma



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