Abnormal facial shape, and Coarctation of aorta

Diseases related with Abnormal facial shape and Coarctation of aorta

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


Top matches:

Low match NOONAN SYNDROME 9; NS9


Noonan syndrome is an autosomal dominant disorder characterized by short stature, craniofacial dysmorphism, short and/or webbed neck, cardiac abnormalities, cryptorchidism, and coagulation defects (summary by Yamamoto et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 9; NS9

Low match CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME; CHDSKM


Congenital heart defects and skeletal malformations syndrome (CHDSKM) is characterized by atrial and ventricular septal defects, with aortic root dilation in adulthood. Skeletal defects are variable and include pectus excavatum, scoliosis, and finger contractures, and some patient exhibit joint laxity. Failure to thrive is observed during infancy and early childhood (Wang et al., 2017).

Related symptoms:

  • Scoliosis
  • Failure to thrive
  • Abnormal facial shape
  • Flexion contracture
  • Intrauterine growth retardation


SOURCES: OMIM MENDELIAN

More info about CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME; CHDSKM

Low match CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY; CAFDADD


Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Abnormal facial shape
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY; CAFDADD

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Other less relevant matches:

Low match CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION; CPCMR


CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION; CPCMR Is also known as cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION; CPCMR

Low match GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES; GDACCF


GDACCF is an intellectual disability syndrome apparent soon after birth with neonatal hypotonia, poor feeding, and respiratory insufficiency followed by delayed psychomotor development and intellectual disability with poor speech. Brain imaging shows aplasia or hypoplasia of the corpus callosum. Affected individuals have variable dysmorphic facial features, and some may have dysplastic, cystic kidneys or mild cardiac defects (summary by Stevens et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES; GDACCF

Low match TRANSALDOLASE DEFICIENCY


Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.

TRANSALDOLASE DEFICIENCY Is also known as taldo deficiency|eyaid syndrome

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TRANSALDOLASE DEFICIENCY

Low match SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY; SRTD15


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).SRTD15 is characterized by narrow thorax, oral and cardiovascular anomalies, short long bones, and postaxial polydactyly, in addition to other congenital anomalies. Considerable variability in features and in severity has been reported, with some affected individuals succumbing shortly after birth and others living to adulthood, even within the same family.For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Short stature
  • Scoliosis
  • Abnormal facial shape
  • Low-set ears
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY; SRTD15

Low 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

Low match ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION


ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION Is also known as syndromic bile duct paucity due to a notch2 point mutation|arteriohepatic dysplasia due to a notch2 point mutation|alagille-watson syndrome due to a notch2 point mutation

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • Cognitive impairment
  • Hypertension
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION

Low match SIFRIM-HITZ-WEISS SYNDROME; SIHIWES


Sifrim-Hitz-Weiss syndrome is an autosomal dominant intellectual disability syndrome associated with variable congenital defects affecting other systems, including cardiac, skeletal, and urogenital. Some patients may have short stature, enlarged head circumference, hearing loss, and nonspecific dysmorphic facial features (summary by Sifrim et al., 2016 and Weiss et al., 2016).

SIFRIM-HITZ-WEISS SYNDROME; SIHIWES Is also known as sifrim-hitz-weiss multiple congenital anomalies-mental retardation syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about SIFRIM-HITZ-WEISS SYNDROME; SIHIWES

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Coarctation of aorta

Symptoms // Phenotype % cases
Patent ductus arteriosus Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Ventricular septal defect Common - Between 50% and 80% cases
Atrial septal defect Uncommon - Between 30% and 50% cases
Abnormal heart morphology Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Coarctation of aorta. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short stature Low-set ears Abnormal cardiac septum morphology Hypertelorism Epicanthus Ptosis Broad forehead Downslanted palpebral fissures Abnormality of the skeletal system Upslanted palpebral fissure Ventriculomegaly Syndactyly Hearing impairment Generalized hypotonia Pointed chin Depressed nasal bridge Feeding difficulties Triangular face Hepatomegaly Failure to thrive Pulmonic stenosis Polydactyly Intellectual disability Splenomegaly

Rare Symptoms - Less than 30% cases


Short palpebral fissure Poor speech Microcephaly Tetralogy of Fallot Renal insufficiency Short clavicles Abnormality of cardiovascular system morphology Hypodontia Cleft lip Postaxial polydactyly Deep philtrum Macrocephaly Cirrhosis Hypermetropia Cleft upper lip Hypoplastic left heart Oral cleft Highly arched eyebrow Infra-orbital crease Trigonocephaly Growth delay Short philtrum Wide nasal bridge Anteverted nares Respiratory insufficiency Coarse facial features Hydronephrosis Wide mouth Renal cyst Renal dysplasia Cutaneous syndactyly Hepatosplenomegaly Intrauterine growth retardation Jaundice Short nose Long nose Respiratory distress Scoliosis Flexion contracture Finger clinodactyly Sparse eyebrow Cryptorchidism Deeply set eye Abnormality of the pinna Protruding ear Craniosynostosis Toe syndactyly Thick eyebrow Thick vermilion border High forehead Wide intermamillary distance Sleep disturbance Everted lower lip vermilion Clinodactyly Broad nasal tip Premature birth Depressed nasal ridge Bicuspid aortic valve Coarse hair Hand polydactyly Supernumerary nipple Prominent occiput Short middle phalanx of the 5th finger Persistence of primary teeth Clinodactyly of the 5th finger Congestive heart failure Malar flattening Median cleft lip Small nail Short ribs Horseshoe kidney Cone-shaped epiphysis Mesomelia Atrioventricular canal defect Metaphyseal dysplasia Hamartoma Increased number of teeth Spinal canal stenosis Hyperkeratosis Thoracic dysplasia Long philtrum Vaginal atresia Complete atrioventricular canal defect Horizontal ribs Accessory oral frenulum Bilateral postaxial polydactyly Hydrometrocolpos Hypoplasia of the epiglottis Partial atrioventricular canal defect Strabismus Myopia Intellectual disability, mild Triangular mouth Muscular ventricular septal defect Mesoaxial hand polydactyly Astigmatism Exocrine pancreatic insufficiency Poor coordination Pulmonary artery stenosis Wolff-Parkinson-White syndrome Cholestatic liver disease Peripheral pulmonary artery stenosis Butterfly vertebrae Dark urine Axenfeld anomaly Hypogonadism Micropenis Tapered finger Renal tubular acidosis Postural instability Vesicoureteral reflux Ambiguous genitalia Omphalocele Wormian bones Arnold-Chiari malformation Cupped ear Short femoral neck Neurodevelopmental delay Anteriorly placed anus Flat acetabular roof Posterior embryotoxon Heart murmur No permanent dentition Abnormality of the liver Parasomnia Limb undergrowth Symphalangism of the 5th finger Mesoaxial foot polydactyly Distal/middle symphalangism of 5th finger Cognitive impairment Hypertension Short neck Mandibular prognathia Acidosis Proteinuria Scarring Rickets Retinopathy Stroke Pruritus Malabsorption Hepatic failure Hematuria Cyanosis Pigmentary retinopathy Renal hypoplasia Cholestasis Increased body weight Postaxial hand polydactyly Polyhydramnios Nail dysplasia Thin skin High anterior hairline Large forehead Achalasia Short 2nd finger Laterally extended eyebrow Oral aversion Dental crowding Frontal bossing Talipes equinovarus Abnormality of the genital system Hypoplasia of the corpus callosum Broad hallux Agenesis of corpus callosum Retrognathia Intestinal malrotation Pes planus Neonatal hypotonia Arachnodactyly Telecanthus Anal atresia Talipes Smooth philtrum Short 5th finger 2-3 toe syndactyly Camptodactyly Gastroesophageal reflux Absence seizures Cystic hygroma Double outlet right ventricle Tethered cord Developmental regression Cleft palate Umbilical hernia Motor delay Hernia Blindness Optic atrophy Short chin Autistic behavior Seizures Narrow maxilla Soft skin Narrow nose Full cheeks Narrow forehead Broad thumb Sandal gap Cutis marmorata Tented upper lip vermilion Carious teeth Growth hormone deficiency Webbed neck Premature skin wrinkling Hepatic fibrosis Wide anterior fontanel Decreased liver function Hydrops fetalis Situs inversus totalis Cutis laxa Poor suck Patent foramen ovale Clitoral hypertrophy Dextrocardia Biventricular hypertrophy Pancytopenia Micronodular cirrhosis Functional respiratory abnormality Abnormality of the clitoris Increased serum bile acid concentration Abnormality of glutamine metabolism Brachydactyly Mild short stature Cerebral visual impairment Skeletal dysplasia Narrow chest Sparse and thin eyebrow Telangiectasia Oligohydramnios Mitral valve prolapse Oval face Joint laxity Narrow palate Constipation Flat occiput Delayed ability to walk Inverted nipples Low hanging columella Mitral stenosis Gastrointestinal dysmotility Broad columella Narrow philtrum Asthma Pectus excavatum Anemia Edema Thrombocytopenia Abnormality of the kidney Hyperkeratosis pilaris Small for gestational age Synophrys Curly hair Thin vermilion border Abnormal bleeding Gait imbalance



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