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.
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 ).
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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
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SOURCES: OMIM ORPHANET MESH MENDELIAN
More info about ULNAR/FIBULA RAY DEFECT-BRACHYDACTYLY SYNDROME
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.
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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).
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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
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SOURCES: OMIM ORPHANET MESH MENDELIAN
More info about X-LINKED INTELLECTUAL DISABILITY, SIDERIUS TYPECardiofaciocutaneous (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.
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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
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SOURCES: ORPHANET OMIM MENDELIAN
More info about SECOND BRANCHIAL CLEFT ANOMALYCongenital 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).
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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 |
Patients with Abnormal facial shape and Atrial septal defect. may also develop some of the following symptoms:
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