Cleft palate, and Congenital diaphragmatic hernia

Medium match ISOLATED ANENCEPHALY/EXENCEPHALY

Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days.

• Hypertelorism
• Cleft palate
• Talipes equinovarus
• Hydrocephalus
• Abnormality of cardiovascular system morphology

SOURCES: ORPHANET OMIM MENDELIAN

Medium match SERKAL SYNDROME

SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs.

SERKAL SYNDROME Is also known as serkal syndrome|sex reversion-kidneys, adrenal and lung dysgenesis syndrome

• Growth delay
• Cleft palate
• Low-set ears
• Intrauterine growth retardation
• Ventricular septal defect

SOURCES: OMIM MESH ORPHANET MENDELIAN

Medium match DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15

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

SOURCES: OMIM MENDELIAN

Medium 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 ).

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

SOURCES: OMIM MESH MENDELIAN

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

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

SOURCES: OMIM MENDELIAN

Low match DENYS-DRASH SYNDROME; DDS

DENYS-DRASH SYNDROME; DDS Is also known as nephropathy, wilms tumor, and genital anomalies|drash syndrome|wilms tumor and pseudo- or true hermaphroditism

• Intellectual disability
• Hearing impairment
• Nystagmus
• Neoplasm
• Cleft palate

SOURCES: OMIM MENDELIAN

Low match SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY; SRTD14

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}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

• Generalized hypotonia
• Cleft palate
• Low-set ears
• Depressed nasal bridge
• Abnormality of the skeletal system

SOURCES: OMIM MENDELIAN

Low match LETHAL MULTIPLE PTERYGIUM SYNDROME

Lethal multiple pterygium syndrome (LMPS) is a rare association of anomalies of the skin, muscles and skeleton.

LETHAL MULTIPLE PTERYGIUM SYNDROME Is also known as lmps|pterygium syndrome, multiple, lethal type|autosomal recessive lethal multiple pterygium syndrome

• Microcephaly
• Growth delay
• Hypertelorism
• Micrognathia
• Abnormal facial shape

SOURCES: OMIM ORPHANET MENDELIAN

Low match GILLESSEN-KAESBACH-NISHIMURA SYNDROME; GIKANIS

Gillessen-Kaesbach-Nishimura syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by skeletal dysplasia, dysmorphic facial features, and variable visceral abnormalities, including polycystic kidneys, diaphragmatic hernia, lung hypoplasia, and congenital heart defects. It may be lethal in utero or early in life. The disorder is at the severe end of the phenotypic spectrum of congenital disorders of glycosylation (summary by Tham et al., 2016).

GILLESSEN-KAESBACH-NISHIMURA SYNDROME; GIKANIS Is also known as polycystic kidney disease, autosomal recessive, with microbrachycephaly, hypertelorism, and brachymelia

• Microcephaly
• Hypertelorism
• Micrognathia
• Abnormal facial shape
• Cleft palate

SOURCES: MESH OMIM MENDELIAN

Low match OPITZ GBBB SYNDROME, TYPE I; GBBB1

The Opitz GBBB syndrome is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects (So et al., 2005).This disorder was first reported as 2 separate entities, BBB syndrome and G syndrome; subsequent reports of families in which the BBB and G syndromes segregated within a single kindred suggested that they represent a single entity. Genetic HeterogeneitySee also GBBB2 (OMIM ), caused by mutation in the SPECC1L gene (OMIM ) on chromosome 22q11.

OPITZ GBBB SYNDROME, TYPE I; GBBB1 Is also known as opitz bbbg syndrome, type i|opitz syndrome|os|opitz syndrome, x-linked|ogs1|hypertelorism-hypospadias syndrome|osx|telecanthus-hypospadias syndrome|opitz gbbb syndrome, x-linked|bbbg1|hypertelorism with esophageal abnormality and hypospadias|opitz-g syndr

• Intellectual disability
• Global developmental delay
• Hypertelorism
• Sensorineural hearing impairment
• Cleft palate

SOURCES: OMIM ORPHANET MENDELIAN