Cleft palate, and Eosinophilia

Medium match AUTOSOMAL DOMINANT HYPER-IGE SYNDROME

Autosomal dominant hyper-IgE syndrome (AD-HIES) is a very rare primary immunodeficiency disorder characterized by the clinical triad of high serum IgE (>2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles.

AUTOSOMAL DOMINANT HYPER-IGE SYNDROME Is also known as autosomal dominant hyperimmunoglobulin e syndrome|hyperimmunoglobulin e syndrome type 1|ad-hies|buckley syndrome|stat3 deficiency|job syndrome|hyperimmunoglobulin e-recurrent infection syndrome|autosomal dominant hies

• Scoliosis
• Cleft palate
• Wide nasal bridge
• Fever
• Abnormality of the dentition

SOURCES: ORPHANET MENDELIAN

Low match HOLT-ORAM SYNDROME; HOS

Holt-Oram syndrome is an autosomal dominant disorder characterized by abnormalities of the upper limbs and shoulder girdle, associated with a congenital heart lesion. The typical combination is considered to be a triphalangeal thumb with a secundum atrial septal defect (ASD), but there is a great range in the severity of both the heart and skeletal lesions (summary by Hurst et al., 1991).

HOLT-ORAM SYNDROME; HOS Is also known as atriodigital dysplasia|heart-hand syndrome|hos1

• Intellectual disability
• Short stature
• Failure to thrive
• Micrognathia
• Cleft palate

SOURCES: OMIM MENDELIAN

Low match ROBERTS SYNDROME; RBS

Roberts syndrome is a rare autosomal recessive disorder characterized by tetraphocomelia (symmetrical limb reduction), craniofacial anomalies, growth retardation, mental retardation, and cardiac and renal abnormalities (summary by Goh et al., 2010).

ROBERTS SYNDROME; RBS Is also known as long bone deficiencies associated with cleft lip-palate

• Intellectual disability
• Seizures
• Global developmental delay
• Short stature
• Microcephaly

SOURCES: OMIM MENDELIAN

Low match THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR

The thrombocytopenia-absent radius syndrome (TAR) is characterized by reduction in the number of platelets and absence of the radius; preservation of the thumb distinguishes TAR from other syndromes that combine blood abnormalities with absence of the radius, such as Fanconi anemia (see {227650}). Individuals with TAR have low numbers of megakaryocytes, platelet precursor cells that reside in bone marrow, and frequently present with bleeding episodes in the first year of life that diminish in frequency and severity with age. The severity of skeletal anomalies varies from absence of radii to virtual absence of upper limbs, with or without lower limb defects such as malformations of the hip and knee (summary by Albers et al., 2012).

THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR Is also known as tar syndrome|chromosome 1q21.1 deletion syndrome, 200-kb

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

SOURCES: ORPHANET OMIM MENDELIAN

Low match INCONTINENTIA PIGMENTI

Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).

INCONTINENTIA PIGMENTI Is also known as bloch-siemens syndrome|bloch-sulzberger syndrome

• Intellectual disability
• Seizures
• Global developmental delay
• Short stature
• Scoliosis

SOURCES: ORPHANET MENDELIAN

Low match HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT

Hyper-IgE recurrent infection syndrome is a primary immunodeficiency disorder characterized by chronic eczema, recurrent Staphylococcal infections, increased serum IgE, and eosinophilia. Patients have a distinctive coarse facial appearance, abnormal dentition, hyperextensibility of the joints, and bone fractures (Buckley et al., 1972; Grimbacher et al., 1999).

HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT Is also known as hies, autosomal dominant|hyper-ige syndrome, autosomal dominant|job syndrome

• Scoliosis
• Hypertelorism
• Strabismus
• High palate
• Wide nasal bridge

SOURCES: OMIM MENDELIAN

Low match H SYNDROME

H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

• Global developmental delay
• Short stature
• Generalized hypotonia
• Hearing impairment
• Growth delay

SOURCES: MESH ORPHANET OMIM MENDELIAN

Low match HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4

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

SOURCES: OMIM MENDELIAN

Low match DIAMOND-BLACKFAN ANEMIA 11; DBA11

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
• Growth delay
• Cleft palate
• Anemia
• Neutropenia

SOURCES: OMIM MENDELIAN

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

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

SOURCES: OMIM MENDELIAN