Micrognathia, and Ventricular septal defect

Diseases related with Micrognathia and Ventricular septal defect

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


Top matches:

Medium match TETRAAMELIA SYNDROME 2; TETAMS2


Tetraamelia syndrome-2 (TETAMS2) is characterized by rudimentary appendages or complete absence of the limbs, usually symmetric, as well as bilateral agenesis of the lungs. There are abnormalities of the pulmonary vasculature and dysmorphic features, including bilateral cleft lip/palate, ankyloglossia, mandibular hypoplasia, microretrognathia, and labioscrotal fold aplasia (Szenker-Ravi et al., 2018).For a discussion of genetic heterogeneity of TETAMS, see {273395}.

TETRAAMELIA SYNDROME 2; TETAMS2 Is also known as tetraamelia syndrome 2 with pulmonary agenesis

Related symptoms:

  • Micrognathia
  • Low-set ears
  • Ventricular septal defect
  • Cleft lip
  • Oral cleft


SOURCES: OMIM MENDELIAN

More info about TETRAAMELIA SYNDROME 2; TETAMS2

Medium match JOUBERT SYNDROME 18; JBTS18


Related symptoms:

  • Intellectual disability
  • Growth delay
  • Micrognathia
  • Intrauterine growth retardation
  • Ventricular septal defect


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 18; JBTS18

Medium match NEMALINE MYOPATHY 9; NEM9


Nemaline myopathy-9 is an autosomal recessive muscle disorder characterized by onset of muscle weakness in early infancy. The phenotype is highly variable, ranging from death in infancy due to lack of antigravity movements, to slowly progressive distal muscle weakness with preserved ambulation later in childhood. Muscle biopsy shows typical rod-like structure in myofibers (summary by Gupta et al., 2013).For a discussion of genetic heterogeneity of nemaline myopathy, see {161800}.

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Cleft palate
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about NEMALINE MYOPATHY 9; NEM9

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Other less relevant matches:

Medium match LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 2


Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported.

LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 2 Is also known as multiple contracture syndrome, israeli-bedouin type|lccs2|multiple contracture syndrome, israeli bedouin type a

Related symptoms:

  • Micrognathia
  • Flexion contracture
  • Myopia
  • Skeletal muscle atrophy
  • Ventricular septal defect


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 2

Low match DIAMOND-BLACKFAN ANEMIA 10; DBA10


Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013).For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (OMIM ).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Failure to thrive
  • Micrognathia


SOURCES: OMIM MESH MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 10; DBA10

Low match CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME


CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME Is also known as developmental delay-short stature-dysmorphic features-sparse hair syndrome|loucks-innes syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME

Low match CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME


Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid (see this term) with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome (see this term).

CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME Is also known as oculootofacial dysplasia|burn-mckeown syndrome|oofd

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME

Low match MICROPHTHALMIA, SYNDROMIC 12; MCOPS12


MICROPHTHALMIA, SYNDROMIC 12; MCOPS12 Is also known as microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, SYNDROMIC 12; MCOPS12

Low match PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER); PBD10A


Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 12 (CG12, equivalent to CGG) have mutations in the PEX3 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER); PBD10A

Low match AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE


Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement.

AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE Is also known as polycystic kidney and hepatic disease 1|polycystic kidney disease, infantile, type i|pkhd1|arpkd|ar-pkd|polycystic kidney disease, autosomal recessive|polycystic kidney disease 4 with or without hepatic disease|pkd3, formerly

Related symptoms:

  • Micrognathia
  • Hypertension
  • Hepatomegaly
  • Ventricular septal defect
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE

Top 5 symptoms//phenotypes associated to Micrognathia and Ventricular septal defect

Symptoms // Phenotype % cases
Low-set ears Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
Respiratory insufficiency Uncommon - Between 30% and 50% cases
Hernia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Micrognathia and Ventricular septal defect. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Atrial septal defect Pulmonary hypoplasia Short stature Hypertelorism

Rare Symptoms - Less than 30% cases


Hearing impairment Congestive heart failure Respiratory distress Malar flattening Decreased fetal movement Conductive hearing impairment Congenital diaphragmatic hernia Choanal atresia Depressed nasal bridge Hepatomegaly Global developmental delay Fetal akinesia sequence Epicanthus Downslanted palpebral fissures Abnormality of the kidney Sparse hair Severe global developmental delay Wide nasal bridge Feeding difficulties Generalized hypotonia Secundum atrial septal defect Prominent nose Respiratory failure Short palpebral fissure Akinesia Arthrogryposis multiplex congenita Flexion contracture Abnormality of the eye Growth delay High palate Cleft lip Intrauterine growth retardation Spastic tetraparesis Retrognathia Hypersplenism Delayed speech and language development Hydrocephalus Dystonia Microphthalmia Brachycephaly Portal fibrosis Muscular hypotonia of the trunk Wide nose Broad nasal tip Bicornuate uterus Tetraparesis Short chin Anophthalmia Chorea Hematemesis Biliary tract abnormality Unilateral cleft lip Abnormal palate morphology Abnormality of vision 2-3 toe syndactyly Mixed hearing impairment External ear malformation Eyelid coloboma Hypomimic face Azotemia Median cleft palate Potter facies Bilateral choanal atresia Lower eyelid coloboma Bilateral choanal atresia/stenosis Hypoplasia of the ear cartilage Periportal fibrosis Abnormal facial shape Cryptorchidism Spasticity Hypoplastic left atrium Seizures Tubulointerstitial fibrosis Polycystic kidney dysplasia Portal hypertension Renal insufficiency Dilatation Macrotia Hepatosplenomegaly Low-set, posteriorly rotated ears Abnormality of the liver Scarring Stage 5 chronic kidney disease Splenomegaly Renal cyst Dehydration Oligohydramnios Depressed nasal ridge Cholestasis Abnormal lung morphology Hepatic fibrosis Renal hypoplasia/aplasia Enlarged kidney Hypertension Hepatic cysts Broad forehead Chronic kidney disease Pancreatic cysts Congenital hepatic fibrosis Muscular hypotonia Cataract Cholangitis Areflexia High forehead Pulmonic stenosis Generalized neonatal hypotonia Esophageal varix Atelectasis Round face Chronic lung disease Epiphyseal stippling Perimembranous ventricular septal defect Narrow palpebral fissure Multiple renal cysts Right aortic arch Mandibular prognathia Preauricular skin tag Pterygium Myopia Skeletal muscle atrophy Edema Polyhydramnios Hydronephrosis Facial palsy Dilated cardiomyopathy High myopia Congenital contracture Breech presentation Vitreoretinopathy Limb joint contracture Multiple pterygia Degenerative vitreoretinopathy Failure to thrive Anemia Midface retrusion Patent ductus arteriosus Posteriorly rotated ears Progressive distal muscle weakness Narrow chest Microtia Polydactyly Oral cleft Microretrognathia Bilateral cleft lip Ankyloglossia Bilateral lung agenesis Tetraamelia Hypoplastic pulmonary veins Intellectual disability, severe Kyphoscoliosis Distal muscle weakness Joint laxity Camptodactyly Abnormality of eye movement Horseshoe kidney Molar tooth sign on MRI Scoliosis Muscle weakness Motor delay Myopathy Jaundice Atresia of the external auditory canal Renal dysplasia Coloboma Sensorineural hearing impairment Short nose Abnormality of metabolism/homeostasis Inguinal hernia Narrow mouth Feeding difficulties in infancy Protruding ear Blepharophimosis Abnormal cardiac septum morphology Tubulointerstitial nephritis Short philtrum Prominent nasal bridge Anal atresia Cleft upper lip Thin vermilion border Hypoplasia of the maxilla Bifid uvula Underdeveloped nasal alae Renal hypoplasia Posterior fossa cyst Scaphocephaly Ectopic kidney Prominent forehead Macrocytic anemia Broad neck Increased mean corpuscular volume Cleft soft palate Reticulocytopenia Mandibulofacial dysostosis Cognitive impairment Abnormality of the dentition Proteinuria Hypoplastic toenails Craniosynostosis Hematuria Ectodermal dysplasia Dandy-Walker malformation Cerebellar vermis hypoplasia Sparse eyelashes Trigonocephaly Sparse eyebrow Nephritis Absence of renal corticomedullary differentiation



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