Abnormal facial shape, and Atrial septal defect

Diseases related with Abnormal facial shape and Atrial septal defect

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


Top matches:

Low match DIAMOND-BLACKFAN ANEMIA 4; DBA4


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
  • Growth delay
  • Abnormal facial shape
  • Anemia
  • Atrial septal defect


SOURCES: MESH OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 4; DBA4

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; MRD50


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; MRD50

Low 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

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Other less relevant matches:

Low match NOONAN SYNDROME 5; NS5


Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about NOONAN SYNDROME 5; NS5

Low match X-LINKED INTELLECTUAL DISABILITY, GOLABI-ITO-HALL TYPE


Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, GOLABI-ITO-HALL TYPE

Low match NOONAN SYNDROME 7; NS7


Noonan syndrome is a developmental disorder characterized by reduced postnatal growth, dysmorphic facial features, cardiac defects, and variable cognitive defects (summary by Sarkozy et al., 2009).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 7; NS7

Low match X-LINKED INTELLECTUAL DISABILITY, SIDERIUS TYPE


X-linked intellectual disability, Siderius type is characterised by mild to borderline intellectual deficit associated with cleft lip/palate. Preaxial polydactyly, large hands and cryptorchidism are sometimes present. The syndrome has been described in seven boys from two families. Transmission is X-linked and the syndrome is caused by mutations in the PHF8 gene, localised to the p11.21 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, SIDERIUS TYPE Is also known as siderius-hamel syndrome|mental retardation, x-linked, syndromic, siderius type

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Cleft palate
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SIDERIUS TYPE

Low match CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2


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

Low match SECOND BRANCHIAL CLEFT ANOMALY


Agnathia-otocephaly is a rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal (review by Faye-Petersen et al., 2006).

SECOND BRANCHIAL CLEFT ANOMALY Is also known as dysgnathia complex agnathia-holoprosencephaly|otocephaly|second branchial cleft cyst|holoprosencephaly-agnathia|second branchial cleft fistula

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about SECOND BRANCHIAL CLEFT ANOMALY

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

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Atrial septal defect

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Low-set ears Uncommon - Between 30% and 50% cases
Growth delay 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 Abnormal facial shape and Atrial septal defect. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Downslanted palpebral fissures Short neck Prominent forehead Pulmonic stenosis Abnormal heart morphology Hypertelorism Scoliosis

Rare Symptoms - Less than 30% cases


Seizures Generalized hypotonia Ptosis Long face Cleft palate Epicanthus Macrocephaly Hemangioma Intestinal malrotation Posteriorly rotated ears Abnormality of the skeletal system Talipes equinovarus Upslanted palpebral fissure Autistic behavior Broad forehead Webbed neck Anal atresia Delayed speech and language development Feeding difficulties Autism Conductive hearing impairment Pulmonary hypoplasia Retrognathia Hypoplasia of the maxilla Polyhydramnios Abnormality of the eye Narrow mouth Absent eyebrow Agenesis of corpus callosum Ichthyosis Anteverted nares Cardiomyopathy Hyperkeratosis Proptosis High forehead Coarse facial features Low-set, posteriorly rotated ears Sparse hair Peripheral axonal neuropathy Mitral valve prolapse Respiratory distress Fine hair Bilateral ptosis Sparse eyebrow Situs inversus totalis Curly hair Arthropathy Neuropathic arthropathy Hearing impairment Micrognathia Hypotelorism Mandibular aplasia Holoprosencephaly Abnormality of the genital system Joint laxity Camptodactyly Abnormal cardiac septum morphology Carious teeth Arachnodactyly Coarctation of aorta Thin skin Dental crowding Constipation Pointed chin Finger clinodactyly Short chin Cutis marmorata Long nose Narrow nose Soft skin Deeply set eye Pectus excavatum Abnormality of the outer ear Hypoplasia of the epiglottis Atresia of the external auditory canal Transposition of the great arteries Tracheomalacia Microglossia Stenosis of the external auditory canal Hyperplasia of the maxilla Peripheral neuropathy Laryngeal hypoplasia Short nose Alobar holoprosencephaly Proboscis Aglossia Synotia Failure to thrive Flexion contracture Intrauterine growth retardation Ventricular septal defect Myopia Broad nasal tip High palate Unilateral ulnar hypoplasia Fibular hypoplasia Short 5th finger Lower limb asymmetry Aplasia/Hypoplasia of the ulna Aplasia/Hypoplasia of the fibula Postaxial oligodactyly Arrhythmia Round face Mandibular prognathia Hypertrophic cardiomyopathy Wide mouth Thick vermilion border Abnormality of the sternum Microcephaly Spasticity Bilateral talipes equinovarus Short foot Nail dystrophy Motor delay Anemia Hernia Neutropenia Macrocytic anemia Increased mean corpuscular volume Reticulocytopenia Erythroid hypoplasia Hyperactivity Toe syndactyly Aggressive behavior Mutism Heterotaxy Brachydactyly Frontal bossing Malar flattening Midface retrusion Protruding ear Triangular face Long toe Nasal speech Synophrys Oral cleft Cleft upper lip Decreased testicular size Sloping forehead Low posterior hairline Prominent supraorbital ridges Pes planus Preaxial polydactyly Large hands Preaxial hand polydactyly Slender finger Thoracic kyphosis Bilateral cleft lip Bilateral cleft lip and palate Cleft lip Polydactyly Macroglossia Dysphagia Narrow face Brittle hair Cupped ear Spastic diplegia Dry hair Cognitive impairment Depressed nasal bridge Pectus carinatum Intellectual disability, mild Dolichocephaly Narrow forehead Hyperpigmentation of the skin Poor suck Mild short stature Thickened helices Cryptorchidism Narrow maxilla



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Congestive heart failure and Delayed puberty, related diseases and genetic alterations Low-set ears and Flat face, related diseases and genetic alterations Spasticity and Systemic lupus erythematosus, related diseases and genetic alterations Strabismus and Ectodermal dysplasia, related diseases and genetic alterations Hypertension and Encephalitis, related diseases and genetic alterations

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