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Paraplegia - brachydactyly - cone-shaped epiphysis

General Information (adopted from Orphanet):

Synonyms, Signs:	SPASTIC PARAPLEGIA ASSOCIATED WITH BRACHYDACTYLY TYPE E FITZSIMMONS SYNDROME Fitzsimmons-Guilbert syndrome
Number of Symptoms	47
OrphanetNr:	2823
OMIM Id:	270710
ICD-10:	G82.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	5 cases [Orphanet]
Inheritance:	[Orphanet]
Age of onset:	No data available [Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases:

Rare neurologic disease
-Rare neurologic disease
Syndrome with brachydactyly
-Rare bone disease
-Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0005340)	Spastic/hyperactive bladder		4 / 7739
2	(HPO:0010677)	Enuresis nocturna		7 / 7739
3	(HPO:0002705)	High, narrow palate	Frequent [Orphanet]	308 / 7739
4	(HPO:0000275)	Narrow face		76 / 7739
5	(HPO:0000272)	Malar flattening		277 / 7739
6	(HPO:0000218)	High palate		356 / 7739
7	(HPO:0001276)	Hypertonia	Very frequent [Orphanet]	317 / 7739
8	(HPO:0001347)	Hyperreflexia	Very frequent [Orphanet]	363 / 7739
9	(HPO:0001288)	Gait disturbance	Very frequent [Orphanet]	318 / 7739
10	(HPO:0002167)	Neurological speech impairment	Very frequent [Orphanet]	308 / 7739
11	(HPO:0012407)	Scissor gait		6 / 7739
12	(HPO:0004374)	Hemiplegia/hemiparesis	Very frequent [Orphanet]	158 / 7739
13	(HPO:0007020)	Progressive spastic paraplegia		5 / 7739
14	(HPO:0001260)	Dysarthria		329 / 7739
15	(HPO:0100543)	Cognitive impairment		230 / 7739
16	(HPO:0001263)	Global developmental delay		853 / 7739
17	(HPO:0003487)	Babinski sign		179 / 7739
18	(HPO:0001172)	Abnormality of the thumb	Frequent [Orphanet]	103 / 7739
19	(HPO:0001763)	Pes planus		176 / 7739
20	(HPO:0010743)	Short metatarsal		56 / 7739
21	(HPO:0001156)	Brachydactyly syndrome		180 / 7739
22	(HPO:0000767)	Pectus excavatum		244 / 7739
23	(HPO:0001163)	Abnormality of the metacarpal bones	Very frequent [Orphanet]	149 / 7739
24	(HPO:0010055)	Broad hallux		56 / 7739
25	(HPO:0010049)	Short metacarpal		99 / 7739
26	(HPO:0010579)	Cone-shaped epiphysis	Very frequent [Orphanet]	54 / 7739
27	(HPO:0009803)	Short phalanx of finger		79 / 7739
28	(HPO:0006101)	Finger syndactyly	Frequent [Orphanet]	198 / 7739
29	(HPO:0010230)	Cone-shaped epiphyses of the phalanges of the hand		34 / 7739
30	(HPO:0000944)	Abnormality of the metaphyses	Very frequent [Orphanet]	141 / 7739
31	(HPO:0001167)	Abnormality of finger	Very frequent [Orphanet]	29 / 7739
32	(HPO:0000768)	Pectus carinatum	Very frequent [Orphanet]	136 / 7739
33	(HPO:0001831)	Short toe		52 / 7739
34	(HPO:0004279)	Short palm	Very frequent [Orphanet]	323 / 7739
35	(HPO:0011304)	Broad thumb		39 / 7739
36	(HPO:0009381)	Short finger		45 / 7739
37	(HPO:0008872)	Feeding difficulties in infancy		153 / 7739
38	(HPO:0011968)	Feeding difficulties		240 / 7739
39	(HPO:0004325)	Decreased body weight		492 / 7739
40	(HPO:0004322)	Short stature	Very frequent [Orphanet]	1232 / 7739
41	(HPO:0001611)	Nasal speech		48 / 7739
42	(OMIM)	Slowly progressive spastic paraplegia		2 / 7739
43	(MedDRA:10072883)	Brachydactyly		153 / 7739
44	(OMIM)	Broad halluces		12 / 7739
45	(OMIM)	Scissors gait		1 / 7739
46	(OMIM)	Dysfunctional voiding		1 / 7739
47	(HPO:0012758)	Neurodevelopmental delay	Very frequent [Orphanet]	949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

Fitzsimmons and Guilbert (1987) described male uniovular twins, aged 20 years, who had had slowly progressive spastic paraplegia from early in life. Both had skeletal abnormalities of the hands and feet: brachydactyly, cone-shaped epiphyses, and an abnormal metaphyseal-phalangeal ... Fitzsimmons and Guilbert (1987) described male uniovular twins, aged 20 years, who had had slowly progressive spastic paraplegia from early in life. Both had skeletal abnormalities of the hands and feet: brachydactyly, cone-shaped epiphyses, and an abnormal metaphyseal-phalangeal pattern profile. In addition, they had nonspecific dysarthria and low-normal intellectual capacity. The brachydactyly appears to have been type E (113300). The mode of inheritance was uncertain. Hennekam (1994) reported a girl with slowly progressive difficulties in walking, dysarthria, growth retardation, brachydactyly, and cone-shaped epiphyses, and suggested the eponym Fitzsimmons syndrome. Lacassie et al. (1999) reported monozygotic female twins, aged 62 years, with mental retardation, dysarthria, progressive spastic paraplegia, and brachydactyly type E who had been institutionalized since age 33 years. Differences from the patients reported by Fitzsimmons and Guilbert (1987) included more severe mental retardation and a different metacarpal-phalangeal pattern profile, suggesting either an expanded phenotype of the Fitzsimmons-Guilbert syndrome or a different entity. Armour et al. (2009) reported a 15-year-old boy with features consistent with Fitzsimmons syndrome. He began toe-walking at age 18 months, which progressed to spastic paraparesis by age 4 years, with increased lower limb muscle tone and bilateral extensor plantar responses. Limb contractures and frank spastic gait developed later. He also had dysfunctional bladder voiding with nocturnal enuresis. Global developmental delay became apparent at age 12 months and continued throughout childhood. Physical examination at age 15 years showed microcephaly and small hands and feet with marked brachydactyly, particularly of the second and fifth fingers. Thumbs and big toes were short and broad. Radiographs showed short metacarpals and phalanges. He had a long oval face, facial asymmetry, small chin, dysarthria with hypernasal speech, and high-arched palate. One radiograph available from childhood showed cone-shaped epiphysis of the proximal phalanx of the right great toe. The patient also had Tourette syndrome (137580), which was also present in his otherwise unaffected brother. Karyotype and chromosomal microarray analyses were normal.

Symptoms & Signs

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