Cleft palate, and Intrauterine growth retardation

Medium match MECKEL SYNDROME, TYPE 2; MKS2

Meckel syndrome is a rare autosomal recessive lethal condition characterized by an occipital meningoencephalocele, enlarged kidneys with multicystic dysplasia and fibrotic changes in the portal area of the liver and with ductal proliferation, and postaxial polydactyly. For a more complete phenotypic description and information on genetic heterogeneity, see MKS1 (OMIM ).

MECKEL SYNDROME, TYPE 2; MKS2 Is also known as meckel-gruber syndrome, type 2

• Growth delay
• Cleft palate
• Intrauterine growth retardation
• Microphthalmia
• Polydactyly

SOURCES: OMIM MESH MENDELIAN

Medium match HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4

• Short stature
• Growth delay
• Cleft palate
• Cognitive impairment
• Anemia

SOURCES: OMIM MENDELIAN

Medium match NEU-LAXOVA SYNDROME 2; NLS2

Neu-Laxova syndrome-2 is a rare autosomal recessive disorder characterized by a recognizable pattern of severe congenital malformations leading to prenatal or early postnatal lethality. Affected patients have abnormal craniofacial features, microcephaly, intrauterine growth retardation, ichthyosis, flexion deformities, limb malformations, and edema of the hands and feet. Some patients have malformations of the central nervous system, such as abnormal gyration (summary by Acuna-Hidalgo et al., 2014).For a discussion of genetic heterogeneity of Neu-Laxova syndrome, see NLS1 (OMIM ).

• Microcephaly
• Scoliosis
• Growth delay
• Hypertelorism
• Micrognathia

SOURCES: OMIM MENDELIAN

Medium match MECKEL SYNDROME, TYPE 4; MKS4

Meckel syndrome is an autosomal recessive pre- or perinatal lethal disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by Baala et al., 2007).For a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).

MECKEL SYNDROME, TYPE 4; MKS4 Is also known as meckel-gruber syndrome, type 4

• Microcephaly
• Cleft palate
• Intrauterine growth retardation
• Ventricular septal defect
• Hypoplasia of the corpus callosum

SOURCES: OMIM MENDELIAN

Medium match MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7; MC3DN7

• Seizures
• Global developmental delay
• Hearing impairment
• Sensorineural hearing impairment
• Cleft palate

SOURCES: OMIM MENDELIAN

Medium match AUTOSOMAL DOMINANT SPONDYLOCOSTAL DYSOSTOSIS

Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs.

AUTOSOMAL DOMINANT SPONDYLOCOSTAL DYSOSTOSIS Is also known as autosomal dominant spondylocostal dysplasia

• Microcephaly
• Scoliosis
• Cleft palate
• Wide nasal bridge
• Intrauterine growth retardation

SOURCES: ORPHANET MENDELIAN

Medium match CEREBROOCULOFACIOSKELETAL SYNDROME 3; COFS3

Cerebrooculofacioskeletal syndrome is a severe, progressive neurologic disorder characterized by prenatal onset of arthrogryposis, microcephaly, and growth failure. Postnatal features include severe developmental delay, congenital cataracts (in some), and marked UV sensitivity of the skin. Survival beyond 6 years of age is rare. COFS represents the severe end of the spectrum of disorders caused by mutations in nucleotide excision repair (NER) genes, with Cockayne syndrome and xeroderma pigmentosum being milder NER-related phenotypes (summary by Drury et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of cerebrooculofacioskeletal syndrome, see COFS1 (OMIM ).

• Global developmental delay
• Microcephaly
• Growth delay
• Micrognathia
• Cleft palate

SOURCES: OMIM MESH 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 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 CENTRAL CORE DISEASE OF MUSCLE; CCD

Typical central core disease is a relatively mild congenital myopathy, usually characterized by motor developmental delay and signs of mild proximal weakness most pronounced in the hip girdle musculature. Orthopedic complications, particularly congenital dislocation of the hips and scoliosis, are common, and CCD patients are at risk of having malignant hyperthermia (MHS1 ). Onset of CCD is usually in childhood, although adult onset has also been reported, illustrating phenotypic variability (Jungbluth et al., 2009). Some patients can present in utero or at birth with severe congenital myopathy (Bharucha-Goebel et al., 2013).

CENTRAL CORE DISEASE OF MUSCLE; CCD Is also known as cco

• Seizures
• Global developmental delay
• Generalized hypotonia
• Scoliosis
• Muscle weakness

SOURCES: OMIM MENDELIAN