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]

Additional features include dental anomalies (oligodontia/hypodontia (see these terms) of permanent teeth; 90%), sensorineural hearing loss ( 75%), scalp defects (aplasia cutis congenital; 65%), short stature ( 60%), hypothyroidism ( 40%), microcephaly [orpha.net]

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]

Prognosis Pancreatic insufficiency and complications of severe malnutrition (e.g. severe hypoproteinemia, vitamin deficiency, immunodeficiency) may lead to death in infancy or early childhood. [orpha.net]

0000677 Sensorineural hearing 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 [rarediseases.info.nih.gov]

transverse palmar crease 0000954 Situs inversus totalis All organs on wrong side of body 0001696 Small for gestational age Birth weight less than 10th percentile Low birth weight [ more ] 0001518 Sparse scalp hair Scalp hair, thinning Sparse, thin scalp [rarediseases.info.nih.gov]

She was born normally at term with a birthweight of 2.45 kg and suffered from a secondary apnea requiring resuscitation followed by feeding difficulties and poor weight gain. [yumpu.com]

Clinical description Onset of symptoms is usually during infancy with hallmark features being aplasia/hyposia of nasal alae and pancreatic exocrine insufficiency (presenting in the newborn or young infant with failure to thrive, oily stools and fat-soluble [orpha.net]

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]

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]

[…] right side of the chest),[1] atrial and ventricular septal defect;[1] low birth-weight,[24] failure to thrive,[24] hypotonia (decreased muscle tone);[19] sacral hiatus (a structural deficiency of the sacral vertebrae),[24] congenital cataracts,[24] and cafe-au-lait [en.wikipedia.org]

upsweep of hair Cowlick Frontal Cowlick Upswept frontal hair [ more ] 0002236 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Hypocalcemia Low blood calcium levels 0002901 Hypoplasia of the primary teeth Decreased size of [rarediseases.info.nih.gov]

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]

impaired.[12][17] Special education, specialized counseling methods and occupational therapy designed for those with mental retardation have proven to be effective, for both the patient and their families.[31] This, too, is carefully considered for JBS [en.wikipedia.org]

She had a FIG. 1 Patient at age of 12 days: Characteristic facies with beaked nose, hypoplastic alae nasi, long philtrum with thin upper lip and frontal hirsutism with upsweep of hair. INDIAN PEDIATRICS 510 VOLUME 50 __ MAY 16, 2013 [yumpu.com]

nose Beaklike protrusion Hooked nose Polly beak nasal deformity [ more ] 0000444 Cryptorchidism Undescended testes Undescended testis [ more ] 0000028 Death in childhood 0003819 Dilatation Wider than typical opening or gap 0002617 Fair hair Blond hair [rarediseases.info.nih.gov]

There was absence of alae nasi, parrot beak nose, low set ear, patchy alopecia with irregular coarse hair over scalp (Figure 1). Pitting edema was also detected feet on physical examination. [tropicalgastro.com]