Table 1.

Clinical data from individuals with HSS

Patient No.	1	2	3	4	5a	6	7	8b
Ethnic origin	Arabian	German (C)	Kosovan (C)	Czech (C)	Turkish	Czech (C)	German (C)	German (C)
Sex	F	F	F	M	M	M	F	M
Birth weight (SD)	−1.5	−0.5	−0.6	−1	−1.9	+ 1.7	−0.6	−2.3
Birth length (SD)	−2.6	+0.1	−0.6	0	−1	0	+0.8	−3.8
OFC birth (SD)	−0.9	+0.9	microcephaly	nd	−2	0	−0.9	−2.8
OFC* (SD)	−2.6	+0.9	−2.9	−1	nd	−0.2	−2.0	−10
Height* (SD)	−4.2	−1	−4.4	+0.5	nd	−1.5	−1.6	−10.1
Weight* (SD)	−2.6	−0.8	−2.5	+0.3	nd	−0.8	−2.0	−7.1
Age*	9y9mo	3 y2 mo	4y9 mo	2 y 4 mo	nd	7y 7 mo	2 y7 mo	7 mo
Development/ID	mildly retarded	mildly retarded	delayed at the beginning, now normal	slightly delayed	nd	delayed at the beginning, now normal	normal	markedly delayed
Speech	36 mo	first words: <12 mo	first words: 30 mo	first words: 12 mo	nd	first words: 12 mo, dyslalia until 6 y, rhinolalia until now because of velopharyngeal insufficiency	first words: 9 mo	nd
Sitting and walking	walking: 30 mo	sitting: 8 mo walking: 19 mo	sitting: 14 mo walking: 20 mo	sitting: 10 mo walking: 15 mo	nd	sitting: 6 mo walking: 15 mo	sitting: 10 mo walking: 13 mo	nd
Hair and skin	sparse hair, high, anterior hairline anterior hairline	full hair, high anterior hairline	sparse hair, high anterior hairline, atrophic skin of the head	sparse hair, high anterior hairline	high anterior hairline	atrophic skin of the head, face and belly in infancy, high anterior hairline	sparse hair, high anterior hairline, atrophic skin on the nose, several telangi-ectasias	sparse hair, high anterior hairline, eyebrows and eyelashes, prominent vessels, leathery skin, more deeply pigmented back, lack of subcutaneous fat
Craniofacial features
Head	broad forehead	frontal bossing	broad forehead	frontal bossing, short neck	broad forehead	large upper head, hypoplastic facial bones, short neck	frontal bossing	prominent and broad forehead, short neck
Eye	congenital cata-racts, right eye smaller than left, nystagmus, blue sclerae	congenital cataracts, microphthalmia bl (left more pronounced)	congenital cataracts, downslanted palpebral fissures	microphthalmia, strabism	congenital cata-racts, micro-phthalmia bl	microphthalmia, nystagmus, convergent strabism, amblyopia	congenital cataracts, microphthalmia bl, papilledema bl	congenital cataracts, microphthalmia, deeply set eyes
Nose	long, thin	small, pointed	small, narrow nasal tip and rigde, underdeveloped alae nasi	small, underdevel-oped alae nasi	small and pointed, under-developed alae nasi	short in infancy, now thin	small, narrow	small, narrow
Mouth	narrow, protruding tongue	narrow, thin vermil-lion border, high-narrow arched palate	narrow with thin lips	narrow	nd	narrow, high arched palate	narrow, high-arched palate	narrow
Teeth	neonatal	neonatal, maxilla: lacks 2 incisors, mandible: partly double-rowed	neonatal	abnormal, overcrowded, malocclusion, open bite	neonatal	abnormal, overcrowded incisors, malocclusion, open bite	first tooth>20 mo, 1 maxilla incisor right lacking, inclined arrangemet of the teeth	−
Mandible	micro-retrognathia	microretrognathia	microretrognathia	microretrognathia, flat mandibular angle	receding	hypoplastic mandible with increased angle due to anterior displacement of the the temporomandibular joint	micrognathia	micrognathia
Other anomalies	body asymmetry with a smaller left side, recurrent infections of the upper airways		low-set ears	dysplastic auricles, hip dysplasia	apnoea, recurrent pneumonias	dysplastic auricles, hip dysplasia, cervical-thoracic scoliosis, thin calvarium with ossal defects, narrow vertebral tube, scapulae alatae, myotonic reaction in EMG, umbilical hernia o	progressive snoring with aggravate breathing, recurrent infections of the upper airways, apnoea	polymicrogyria, hypoplasia of cc, cb and bg, narrowing of foramen magnum and of spinal canal at cranio cervical junction, large perimembrane VSD, overriding of aorta, DCRV, hepatomegaly, hip dysplasia, clubfoot r, planovalgus 1, thumb malposition and flexion contracture bl, hypospadia, inguinal hernia 1, bend in penis shaft, poor weight gain

bg, Basal ganglia; bl, bilateral; C, Caucasian; cb, cerebellum; cc, corpus callosum; DCRV, double-chambered right ventricle; EMG, electromyography; F, female; ID, intellectual disability; l, left; M, male; mo, months; nd, not documented; o, operated at the age of 3 months; r, right; SD, standard deviation; VSD, ventricular septal defect; y, year(s); +, present; –, absent

^aDied at the age of 13 months from pneumonia

^bdied at the age of 7 months.

^*at last follow-up.