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Dermato-cardio-skeletal syndrome, Borrone type

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms	50
OrphanetNr:	1266
OMIM Id:	211170
ICD-10:	Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	2 cases [Orphanet]
Inheritance:	Autosomal recessive X-linked recessive [Orphanet]
Age of onset:	Neonatal Infancy [Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases:

Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
-Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
-Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0000337)	Broad forehead	Frequent [Orphanet]	116 / 7739
2	(HPO:0012471)	Thick vermilion border	Very frequent [Orphanet]	115 / 7739
3	(HPO:0000280)	Coarse facial features	Very frequent [Orphanet]	189 / 7739
4	(HPO:0000212)	Gingival overgrowth		43 / 7739
5	(HPO:0000154)	Wide mouth	Very frequent [Orphanet]	137 / 7739
6	(HPO:0000445)	Wide nose	Very frequent [Orphanet]	190 / 7739
7	(HPO:0000316)	Hypertelorism	Very frequent [Orphanet]	644 / 7739
8	(HPO:0000168)	Abnormality of the gingiva	Frequent [Orphanet]	51 / 7739
9	(HPO:0000303)	Mandibular prognathia	Frequent [Orphanet]	179 / 7739
10	(HPO:0000164)	Abnormality of the teeth	Frequent [Orphanet]	291 / 7739
11	(HPO:0000684)	Delayed eruption of teeth	Frequent [Orphanet]	117 / 7739
12	(HPO:0000490)	Deeply set eye	Very frequent [Orphanet]	131 / 7739
13	(HPO:0000494)	Downslanted palpebral fissures	Frequent [Orphanet]	328 / 7739
14	(HPO:0006480)	Premature loss of teeth		23 / 7739
15	(HPO:0000322)	Short philtrum	Very frequent [Orphanet]	130 / 7739
16	(HPO:0000348)	High forehead	Frequent [Orphanet]	157 / 7739
17	(HPO:0005280)	Depressed nasal bridge	Very frequent [Orphanet]	381 / 7739
18	(HPO:0000411)	Protruding ear	Frequent [Orphanet]	140 / 7739
19	(HPO:0000771)	Gynecomastia	Occasional [Orphanet]	53 / 7739
20	(HPO:0100490)	Camptodactyly of finger	Frequent [Orphanet]	212 / 7739
21	(HPO:0012385)	Camptodactyly		113 / 7739
22	(HPO:0005619)	Thoracolumbar kyphosis		8 / 7739
23	(HPO:0002797)	Osteolysis	Very frequent [Orphanet]	68 / 7739
24	(HPO:0004279)	Short palm	Very frequent [Orphanet]	323 / 7739
25	(HPO:0009473)	Joint contracture of the hand		84 / 7739
26	(HPO:0003312)	Abnormal form of the vertebral bodies	Frequent [Orphanet]	172 / 7739
27	(HPO:0002650)	Scoliosis	Frequent [Orphanet]	705 / 7739
28	(HPO:0002751)	Kyphoscoliosis		131 / 7739
29	(HPO:0001163)	Abnormality of the metacarpal bones	Frequent [Orphanet]	149 / 7739
30	(HPO:0001387)	Joint stiffness	Frequent [Orphanet]	322 / 7739
31	(HPO:0002808)	Kyphosis	Frequent [Orphanet]	289 / 7739
32	(HPO:0001156)	Brachydactyly syndrome		180 / 7739
33	(HPO:0002816)	Genu recurvatum	Frequent [Orphanet]	30 / 7739
34	(HPO:0010886)	Osteochondritis Dissecans	Very frequent [Orphanet]	9 / 7739
35	(HPO:0004209)	Clinodactyly of the 5th finger	Frequent [Orphanet]	288 / 7739
36	(HPO:0004568)	Beaking of vertebral bodies		19 / 7739
37	(HPO:0004299)	Hernia of the abdominal wall	Occasional [Orphanet]	176 / 7739
38	(HPO:0000023)	Inguinal hernia		181 / 7739
39	(HPO:0001537)	Umbilical hernia	Occasional [Orphanet]	206 / 7739
40	(HPO:0004322)	Short stature		1232 / 7739
41	(HPO:0001072)	Thickened skin	Very frequent [Orphanet]	87 / 7739
42	(HPO:0001061)	Acne	Very frequent [Orphanet]	33 / 7739
43	(HPO:0001635)	Congestive heart failure		232 / 7739
44	(HPO:0001634)	Mitral valve prolapse		69 / 7739
45	(HPO:0001633)	Abnormality of the mitral valve	Very frequent [Orphanet]	69 / 7739
46	(OMIM)	Large joint flexion contractures		1 / 7739
47	(MedDRA:10000501)	Acne conglobata		1 / 7739
48	(HPO:0008473)	Narrow anterio-posterior vertebral body diameter		2 / 7739
49	(MedDRA:10072883)	Brachydactyly		153 / 7739
50	(OMIM)	Reduced sagittal diameter and anterior beaking of vertebrae		1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

Borrone et al. (1993) reported the cases of 2 brothers with a severe progressive disorder characterized by thick skin, acne conglobata, 'coarse' face, osteolysis, gingival hypertrophy, brachydactyly, camptodactyly, and mitral valve prolapse. The younger brother died at age ... Borrone et al. (1993) reported the cases of 2 brothers with a severe progressive disorder characterized by thick skin, acne conglobata, 'coarse' face, osteolysis, gingival hypertrophy, brachydactyly, camptodactyly, and mitral valve prolapse. The younger brother died at age 24 from heart failure. Autopsy was not performed. In the older brother, thoracolumbar gibbus was noted at 8 months of age. Eruption of teeth did not occur until age 2. Gingival hypertrophy and brachydactyly were noted in the first year. Psychomotor development was normal however. At the age of 11 he showed bilateral inguinal hernias along with the other features. The vertebrae at age 11 showed reduced sagittal diameter and anterior beaking. At age 36 years the surviving brother showed severe disfiguring acne conglobata, particularly on the back and face, flexion contractures of large joints, marked gingival hypertrophy with loss of all teeth, and kyphoscoliosis and height of 164 cm. Biochemical and pathologic studies excluded known metabolic diseases. Both parents came from a very small Ligurian village but denied consanguinity. Van Steensel et al. (2007) reported 2 Dutch brothers, born of consanguineous parents, who had a constellation of symptoms similar to that described by Borrone et al. (1993). Both sibs had severe acne and underwent valvuloplasty for mitral valve prolapse with left ventricular dilation. The authors stated that the brothers' facial phenotype was 'identical' to that illustrated in the previous report: coarse and prognathic, with a high, broad forehead, deep-set eyes with downward-slanting palpebral fissures and thickened lower eyelid folds, wide mouth, thick lips, and short philtrum. Their fingers were shortened and broad with slightly flat and broad nails, particularly the thumbs. The older brother had vertebral column abnormalities that were initially diagnosed as 'Scheuermann-like,' and also underwent mastectomy due to gynecomastia. Growth hormone, oligosaccharide, and amino acid levels were normal, and there were no vacuolated lymphocytes. Previously reported features not present in the Dutch brothers included gum hypertrophy, microscopic skin changes, and osteolysis, but van Steensel et al. (2007) noted that their patients were much younger at initial presentation (ages 17 and 19 years, respectively) than those described by Borrone et al. (1993) and that given the apparently progressive nature of the disease, they might yet develop those symptoms.

Symptoms & Signs

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	Disease
	Symptom