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Brachymorphism - onychodysplasia - dysphalangism

General Information (adopted from Orphanet):

Synonyms, Signs:	Senior syndrome bod syndrome
Number of Symptoms	49
OrphanetNr:	1292
OMIM Id:	113477
ICD-10:	Q87.1
UMLs:	C1862082
MeSH:	C536242
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	9 cases [Orphanet]
Inheritance:	Autosomal dominant [Orphanet]
Age of onset:	Neonatal [Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases:

Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
-Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
-Rare developmental defect during embryogenesis
Syndrome with brachydactyly
-Rare bone disease
-Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0000154)	Wide mouth	Frequent [Orphanet]	137 / 7739
2	(HPO:0000252)	Microcephaly	Very frequent [Orphanet]	832 / 7739
3	(HPO:0005105)	Abnormal nasal morphology	Frequent [Orphanet]	114 / 7739
4	(HPO:0000349)	Widow's peak	Occasional [Orphanet]	26 / 7739
5	(HPO:0000431)	Wide nasal bridge	Very frequent [Orphanet]	290 / 7739
6	(HPO:0002007)	Frontal bossing	Frequent [Orphanet]	366 / 7739
7	(HPO:0000307)	Pointed chin	Frequent [Orphanet]	45 / 7739
8	(HPO:0000280)	Coarse facial features	Occasional [Orphanet]	189 / 7739
9	(HPO:0000574)	Thick eyebrow	Occasional [Orphanet]	96 / 7739
10	(HPO:0000341)	Narrow forehead	Frequent [Orphanet]	96 / 7739
11	(HPO:0000445)	Wide nose		190 / 7739
12	(HPO:0000272)	Malar flattening	Frequent [Orphanet]	277 / 7739
13	(HPO:0000343)	Long philtrum	Very frequent [Orphanet]	262 / 7739
14	(HPO:0000325)	Triangular face	Frequent [Orphanet]	91 / 7739
15	(HPO:0001999)	Abnormal facial shape		169 / 7739
16	(HPO:0000286)	Epicanthus	Frequent [Orphanet]	371 / 7739
17	(HPO:0000486)	Strabismus	Frequent [Orphanet]	576 / 7739
18	(HPO:0009700)	Finger symphalangism	Occasional [Orphanet]	55 / 7739
19	(HPO:0004220)	Short middle phalanx of the 5th finger		17 / 7739
20	(HPO:0004227)	Short distal phalanx of the 5th finger		4 / 7739
21	(HPO:0004209)	Clinodactyly of the 5th finger	Occasional [Orphanet]	288 / 7739
22	(HPO:0002750)	Delayed skeletal maturation	Very frequent [Orphanet]	250 / 7739
23	(HPO:0011305)	Partial absence of toe	Very frequent [Orphanet]	18 / 7739
24	(HPO:0009882)	Short distal phalanx of finger	Very frequent [Orphanet]	125 / 7739
25	(HPO:0004279)	Short palm	Very frequent [Orphanet]	323 / 7739
26	(HPO:0001537)	Umbilical hernia	Occasional [Orphanet]	206 / 7739
27	(HPO:0004299)	Hernia of the abdominal wall	Occasional [Orphanet]	176 / 7739
28	(HPO:0001511)	Intrauterine growth retardation	Frequent [Orphanet]	358 / 7739
29	(HPO:0004322)	Short stature	Very frequent [Orphanet]	1232 / 7739
30	(HPO:0011362)	Abnormal hair quantity	Occasional [Orphanet]	92 / 7739
31	(HPO:0001804)	Hypoplastic fingernail	Very frequent [Orphanet]	62 / 7739
32	(HPO:0001800)	Hypoplastic toenails	Very frequent [Orphanet]	74 / 7739
33	(HPO:0001805)	Thick nail	Very frequent [Orphanet]	96 / 7739
34	(HPO:0001798)	Anonychia		28 / 7739
35	(HPO:0002164)	Nail dysplasia		82 / 7739
36	(HPO:0001631)	Atria septal defect	Occasional [Orphanet]	274 / 7739
37	(HPO:0001633)	Abnormality of the mitral valve	Occasional [Orphanet]	69 / 7739
38	(HPO:0010959)	Congenital cystic adenomatoid malformation of the lung		2 / 7739
39	(HPO:0012252)	Abnormal respiratory system morphology	Occasional [Orphanet]	14 / 7739
40	(OMIM)	Abnormal phalanges		1 / 7739
41	(OMIM)	Normal or only mildly reduced intelligence		1 / 7739
42	(OMIM)	Hypo/aplasia or fusion of the distal phalanges of the fifth finger and toe		1 / 7739
43	(OMIM)	Pre- and postnatal short stature		2 / 7739
44	(OMIM)	Nail dysplasia/aplasia		1 / 7739
45	(OMIM)	Tiny fingernails		1 / 7739
46	(HPO:0000006)	Autosomal dominant inheritance		2518 / 7739
47	(OMIM)	Flat malar area		2 / 7739
48	(HPO:0012758)	Neurodevelopmental delay	Occasional [Orphanet]	949 / 7739
49	(OMIM)	Hypo/aplasia of terminal fifth digits		1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

Senior (1971) described 6 'short children with tiny fingernails.' Pre- and postnatal short stature, hypoplastic fifth digits with abnormal phalanges and tiny fingernails, facial dysmorphism, and, in some, mild intellectual impairment were observed. Mace and Gotlin (1973) reported ... Senior (1971) described 6 'short children with tiny fingernails.' Pre- and postnatal short stature, hypoplastic fifth digits with abnormal phalanges and tiny fingernails, facial dysmorphism, and, in some, mild intellectual impairment were observed. Mace and Gotlin (1973) reported a single case. As noted in connection with the Coffin-Siris syndrome (CSS; 135900), the condition reported by Senior (1971) resembles that disorder except that mental retardation is milder. Verloes et al. (1993) reported 3 unrelated children with intrauterine proportionate growth retardation and facial dysmorphism (broad nose, flat malar area, large mouth, pointed chin), microcephaly, hypo/aplasia of the terminal fifth digits, and normal or only mildly reduced intelligence. Radiologic findings included hypo/aplasia or fusion of the distal phalanges of the fifth finger and toe, brachymesophalangism V, and nail dysplasia or aplasia. One of the 3 children had cystic adenomatoid disease of the lung. This disorder may be a mild form of Coffin-Siris syndrome or an independent entity. Verloes et al. (1993) suggested that it be called the brachymorphism-onychodysplasia-dysphalangism syndrome (BOD syndrome) because 'Senior syndrome' runs the risk of confusion with the Senior-Loken syndrome (266900). Brautbar et al. (2009) described a 7-year-old girl with hypoplastic nails, especially on the fifth digit of each extremity, which were more noticeable on the feet, coarse face, broad nose, wide mouth, thick eyebrows, long eyelashes, accommodative esotropia, inguinal and umbilical hernia, large premium atrial septal defect and cleft mitral valve, hirsutism, and mild developmental delay. Brautbar et al. (2009) suggested that even though the patient met the minimal clinical diagnostic criteria of Coffin-Siris syndrome, some features, such as mild developmental delay and the more severe involvement of the feet when compared to the hands, are more consistent with BOD syndrome. Brautbar et al. (2009) suggested that CSS and BOD syndrome are probably allelic disorders.

Symptoms & Signs

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