Clinical presentation There is wide variability in the clinical presentation, but common features are: low birth weight hypotonia intellectual disability (wide range) delayed skeletal maturation, short stature facial features microcephaly aplastic alae [radiopaedia.org]

Shwachman Syndrome : Congenital disorder characterized by pancreatic insufficiency, bone marrow dysfunction, and short stature; imperforate anus and Hirschsprung disease can be associated with this syndrome. [accessanesthesiology.mhmedical.com]

stature Decreased body height Small stature [ more ] 0004322 Underdeveloped nasal alae Underdeveloped tissue around nostril 0000430 30%-79% of people have these symptoms Abnormal vagina morphology 0000142 Absent lacrimal punctum 0001092 Anal atresia [rarediseases.info.nih.gov]

Eventually, affected individuals may exhibit short stature. Affected infants and children may also experience delays in achieving developmental milestones (developmental delays) and exhibit varying degrees of intellectual disability. [rarediseases.org]

stature [ 1, 11 ] Dental anomalies: oligodontia and absence of permanent teeth [ 1, 6, 7, 11 ] Anorectal anomalies: imperforate anus [ 4, 11, 12 ] Hypotonia, microcephaly, and mental retardation sometimes normal intelligence[ 3, 7, 11 ] lacrimal duct [wjgnet.com]

septal defect An opening in the wall separating the top two chambers of the heart Hole in heart wall separating two upper heart chambers [ more ] 0001631 Autosomal recessive inheritance 0000007 Cafe-au-lait spot 0000957 Calvarial skull defect Cranial [rarediseases.info.nih.gov]

Echocardiography showed a small atrial septal defect. Whole body X-ray, abdominal ultrasound, brain computed tomography (CT) scan, and temporal bone CT scan were normal. [wjgnet.com]

Congenital heart defects may include “holes” in the fibrous partition (septum) separating the upper or lower chambers of the heart (atrial septal defects [ASDs] or ventricular septal defects [VSDs]) as well as weakening of the heart muscle (cardiomyopathy [rarediseases.org]

80%-99% of people have these symptoms Abnormal hair pattern Abnormal distribution of hair 0010720 Alopecia Hair loss 0001596 Exocrine pancreatic insufficiency Inability to properly digest food due to lack of pancreatic digestive enzymes 0001738 Failure [rarediseases.info.nih.gov]

Without treatment infants usually fail to gain weight and grow at the expected rate (failure to thrive). Eventually, affected individuals may exhibit short stature. [rarediseases.org]

In addition, the infant showed failure to thrive and greasy stools. He received 3 blood transfusions. [wjgnet.com]

In individuals with JBS, intestinal malabsorption results in large, loose, foul smelling stools that contain an excessive amount of fat (steatorrhea) and other nutrients. [rarediseases.org]

impairment 0000407 5%-29% of people have these symptoms Abnormal cardiac septum morphology 0001671 Abnormality of the nares Abnormality of the nostrils 0005288 Cholestasis Slowed or blocked flow of bile from liver 0001396 Death in infancy Infantile death [rarediseases.info.nih.gov]

0012050 Aplasia cutis congenita of scalp 0007385 Atrial septal defect An opening in the wall separating the top two chambers of the heart Hole in heart wall separating two upper heart chambers [ more ] 0001631 Autosomal recessive inheritance 0000007 Cafe-au-lait [rarediseases.info.nih.gov]

Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. For example, “chromosome 15q15-q21.1” refers to bands 15-21.1 on the long arm of chromosome 15. [rarediseases.org]