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Suarez-Stickler syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:	Skeletal dysplasia with wormian bone - multiple fractures - dentin abnormality
Number of Symptoms	24
OrphanetNr:	166277
OMIM Id:	604922
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	3 cases [Orphanet]
Inheritance:	Autosomal dominant inheritance [Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases:

Genetic malformation syndrome with odontal and/or periodontal component
-Rare genetic disease
Malformation syndrome with odontal and/or periodontal component
-Rare developmental defect during embryogenesis
-Rare odontologic disease
Malformative syndrome with dentinogenesis imperfecta
-Rare developmental defect during embryogenesis
-Rare genetic disease
-Rare odontologic disease
Primary bone dysplasia with decreased bone density
-Rare bone disease
-Rare developmental defect during embryogenesis
-Rare genetic disease

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0000670)	Carious teeth		145 / 7739
2	(HPO:0010299)	Abnormality of dentin	Very frequent [Orphanet]	9 / 7739
3	(HPO:0000316)	Hypertelorism	Frequent [Orphanet]	644 / 7739
4	(HPO:0000268)	Dolichocephaly	Frequent [Orphanet]	144 / 7739
5	(HPO:0000629)	Periorbital fullness		13 / 7739
6	(HPO:0000703)	Dentinogenesis imperfecta		18 / 7739
7	(HPO:0001476)	Delayed closure of the anterior fontanelle		23 / 7739
8	(HPO:0002645)	Wormian bones	Frequent [Orphanet]	65 / 7739
9	(HPO:0002659)	Increased susceptibility to fractures	Frequent [Orphanet]	110 / 7739
10	(HPO:0006494)	Aplasia/Hypoplasia involving bones of the feet	Occasional [Orphanet]	69 / 7739
11	(HPO:0000883)	Thin ribs		31 / 7739
12	(HPO:0001387)	Joint stiffness	Occasional [Orphanet]	322 / 7739
13	(HPO:0011918)	Clinodactyly of the 4th toe		1 / 7739
14	(HPO:0004990)	Epiphyseal streaking		1 / 7739
15	(HPO:0001555)	Asymmetry of the thorax		15 / 7739
16	(HPO:0001377)	Limited elbow extension		38 / 7739
17	(HPO:0008115)	Clinodactyly of the 3rd toe		1 / 7739
18	(HPO:0003103)	Abnormal cortical bone morphology	Frequent [Orphanet]	38 / 7739
19	(HPO:0001863)	Toe clinodactyly	Occasional [Orphanet]	12 / 7739
20	(HPO:0004322)	Short stature	Frequent [Orphanet]	1232 / 7739
21	(OMIM)	Wave-like defects of tibial corticalis (alternating hyperostosis and thinning)		1 / 7739
22	(HPO:0000006)	Autosomal dominant inheritance		2518 / 7739
23	(OMIM)	Normal collagen type I studies		1 / 7739
24	(OMIM)	3rd-4th toe clinodactyly		1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

Suarez and Stickler (1974) reported an 8-year-old girl, the daughter of nonconsanguineous parents, whom they described as having short, thick arms and fingers, a broad saddle-like nose, and a normal height for age. She had a fracture of ... Suarez and Stickler (1974) reported an 8-year-old girl, the daughter of nonconsanguineous parents, whom they described as having short, thick arms and fingers, a broad saddle-like nose, and a normal height for age. She had a fracture of the forearm at 2 weeks of age and a pathologic fracture of the right tibia at the age of 6 years. Radiographs of the tibia and the long bones of the upper arms showed scattered radiolucent cortical defects with associated areas of cortical thickening. There were multiple wormian bones in the skull. The teeth were not described. Cognitive development was normal. Moog et al. (1999) reported 2 sibs with striking similarity in clinical and radiographic features to the child described by Suarez and Stickler (1974). They were born to Dutch nonconsanguineous parents and had normal cognitive development. The older sib, a 6-year-old boy, had fractures affecting the tibiae following minimal trauma at ages 4, 5, and 6 years. Radiographs showed almost identical cortical lesions to those of the child reported by Suarez and Stickler (1974). These were not present in the younger sib at the age of 22 months. Both children had multiple wormian bones but no osteopenia. The younger child had a widely open anterior fontanel at 22 months. Heights were at or below third centile for age. They had hypertelorism and orbital fullness. The teeth were small, translucent, and susceptible to caries. The mother, who had no radiographic abnormalities of the skull, legs, or hands, also had translucent teeth. Electrophoresis of collagen from cultured fibroblasts and analysis of the 3-prime untranslated regions of COL1A1 (120150) and COL1A2 (120160) in genomic DNA and cDNA gave normal results. Karyotype, bone biochemistry, and metabolic screening were normal. Moog et al. (1999) pointed out the similarities between their cases and that of Suarez and Stickler (1974) and differentiated them from osteogenesis imperfecta (see 166200), Hajdu-Cheney syndrome (102500), and serpentine fibula syndrome on the basis of collagen studies, lack of osteopenia, the presence of cortical defects, which they believe to be pathognomic, lack of osteolysis, and facial phenotype.

Symptoms & Signs

	Field	Query
	Disease
	Symptom