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Laurin-Sandrow syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:	MIRROR-IMAGE POLYDACTYLY TETRAMELIC MIRROR-IMAGE POLYDACTYLY FIBULA AND ULNA, DUPLICATION OF, WITH ABSENCE OF TIBIA AND RADIUS LAURIN-SANDROW SYNDROME, SEGMENTAL, INCLUDED MIRROR HANDS AND FEET WITH NASAL DEFECTS MIP TMIP LSS sandrow syndrome Mirror hands and feets - nasal defects
Number of Symptoms	50
OrphanetNr:	2378
OMIM Id:	135750
ICD-10:	Q87.2
UMLs:	C1851100
MeSH:	C535689
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	No data available.
Inheritance:	Autosomal dominant [Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases:

Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
-Rare bone disease
-Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0000035)	Abnormality of the testis	Occasional [Orphanet]	296 / 7739
2	(HPO:0000316)	Hypertelorism	Occasional [Orphanet]	644 / 7739
3	(HPO:0000445)	Wide nose	Frequent [Orphanet]	190 / 7739
4	(HPO:0000430)	Underdeveloped nasal alae	Frequent [Orphanet]	90 / 7739
5	(HPO:0000436)	Abnormality of the nasal tip	Frequent [Orphanet]	18 / 7739
6	(HPO:0009924)	Aplasia/Hypoplasia involving the nose	Frequent [Orphanet]	18 / 7739
7	(HPO:0005105)	Abnormal nasal morphology	Frequent [Orphanet]	114 / 7739
8	(HPO:0000271)	Abnormality of the face		108 / 7739
9	(HPO:0002714)	Downturned corners of mouth	Occasional [Orphanet]	98 / 7739
10	(HPO:0002813)	Abnormality of limb bone morphology	Frequent [Orphanet]	3 / 7739
11	(HPO:0001177)	Preaxial hand polydactyly	Very frequent [Orphanet]	59 / 7739
12	(HPO:0010503)	Fibular duplication		2 / 7739
13	(HPO:0001159)	Syndactyly		140 / 7739
14	(HPO:0001773)	Short foot		86 / 7739
15	(HPO:0009601)	Aplasia/Hypoplasia of the thumb	Very frequent [Orphanet]	80 / 7739
16	(HPO:0003019)	Abnormality of the wrist	Frequent [Orphanet]	52 / 7739
17	(HPO:0001762)	Talipes equinovarus	Frequent [Orphanet]	309 / 7739
18	(HPO:0002992)	Abnormality of the tibia	Frequent [Orphanet]	51 / 7739
19	(HPO:0001769)	Broad foot		31 / 7739
20	(HPO:0001850)	Abnormality of the tarsal bones	Very frequent [Orphanet]	40 / 7739
21	(HPO:0001163)	Abnormality of the metacarpal bones	Very frequent [Orphanet]	149 / 7739
22	(HPO:0001161)	Hand polydactyly		71 / 7739
23	(HPO:0003974)	Absent radius		26 / 7739
24	(HPO:0001387)	Joint stiffness	Frequent [Orphanet]	322 / 7739
25	(HPO:0001770)	Toe syndactyly	Very frequent [Orphanet]	149 / 7739
26	(HPO:0006101)	Finger syndactyly	Very frequent [Orphanet]	198 / 7739
27	(HPO:0006443)	Patellar aplasia		14 / 7739
28	(HPO:0009556)	Absent tibia		9 / 7739
29	(HPO:0002818)	Abnormality of the radius	Frequent [Orphanet]	96 / 7739
30	(HPO:0001841)	Preaxial foot polydactyly	Very frequent [Orphanet]	24 / 7739
31	(HPO:0001252)	Muscular hypotonia	Occasional [Orphanet]	990 / 7739
32	(OMIM)	Duplication of bones of the feet		1 / 7739
33	(HPO:0012758)	Neurodevelopmental delay	Occasional [Orphanet]	949 / 7739
34	(HPO:0000238)	Hydrocephalus	Occasional [Orphanet]	278 / 7739
35	(HPO:0007370)	Aplasia/Hypoplasia of the corpus callosum	Occasional [Orphanet]	180 / 7739
36	(HPO:0001199)	Triphalangeal thumb		56 / 7739
37	(OMIM)	Dysplastic carpal bones		1 / 7739
38	(OMIM)	Autopodial duplication, symmetrical		1 / 7739
39	(OMIM)	Dysplastic tarsal bones		1 / 7739
40	(OMIM)	Dysplastic tibia		1 / 7739
41	(OMIM)	Polydactyly, preaxial or postaxial		4 / 7739
42	(OMIM)	Duplication of bones of the hand		1 / 7739
43	(OMIM)	Dislocation of the patella		1 / 7739
44	(OMIM)	Broad, short feet		8 / 7739
45	(OMIM)	Zeugopodial duplication, symmetrical		1 / 7739
46	(OMIM)	Cup-shaped hands		1 / 7739
47	(OMIM)	Grooved columella		2 / 7739
48	(OMIM)	Cleft nares, bilateral		1 / 7739
49	(HPO:0000006)	Autosomal dominant inheritance		2518 / 7739
50	(OMIM)	Ulnar duplication		1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

Sandrow et al. (1970) described father and daughter with ulnar and fibular dimelia and peculiar facies. At birth the father was noted to have hand and foot anomalies described as syndactyly and polydactyly. Operations to correct digital webs ... Sandrow et al. (1970) described father and daughter with ulnar and fibular dimelia and peculiar facies. At birth the father was noted to have hand and foot anomalies described as syndactyly and polydactyly. Operations to correct digital webs and remove several supernumerary toes were performed. Bilateral clefts enlarged the inferior posterior margins of the nares. The daughter had identical nasal clefts and mirror hands, with fusion of 10 digits in rosebud fashion bilaterally. The fibula and ulna were duplicated bilaterally and the radius and tibia were missing. Sandrow et al. (1970) considered that the case reported by Laurin et al. (1964) was 'almost identical' to their 2 cases. That was a boy who had complete polysyndactyly of his hands which were held in a 'semicupped position' and had 'perfect mirror feet.' He also had bilateral absence of the radius and tibia with bilateral reduplication of the ulna and fibula. Kogekar et al. (1993) described a single case and Martin et al. (1993) described affected father and daughter. It is clear that abnormalities of the nose are particularly characteristic. Martin et al. (1993) pictured a deep groove in the columella of both father and daughter. The mirror-image hands had 'rosebud' appearance because of syndactyly. The mirror-image feet resulted in a fused midline hallux. Martinez-Frias et al. (1994) described an isolated case. They pictured the particular nose with hypoplastic nasal alae and very sharp columella. They proposed that the disorder be called Laurin-Sandrow syndrome. Hatchwell and Dennis (1996) reported a girl with mirror hands and feet and associated groove of the nasal columella. She was said to represent the sixth reported case of this combination of congenital anomalies. Mutation in a HOX gene was suggested by Hatchwell and Dennis (1996) as a likely candidate for the syndrome. Matsumoto et al. (1997) found reports of 7 patients with mirror hands and feet. Parent-to-child transmission was reported in 2 families. Kantaputra (2001) described a Thai man with Laurin-Sandrow syndrome, the ninth reported case. He had an underdeveloped nasal bone, scar-like seams under the nose, large heads of the mandibular condyles, and brachymesophalangy of toes as newly observed findings of the syndrome. He also had mental retardation. He showed duplication of the ulna with nonopposable triphalangeal thumbs and polydactyly of 1 finger. Mirror-image polydactyly of the toes was present. There were 9 toes on the right and 8 on the left. Synostosis of severely malformed tarsal bones was noted. Kjaer et al. (2005) reported a father and son with nasal and limb defects characteristic of Laurin-Sandrow syndrome. Both individuals had distinct nasal defects, triphalangeal thumb, upper limb postaxial polydactyly, total syndactyly of all fingers, and lower limb preaxial mirror image polydactyly with tibia and fibula appearing alike. In the son, lower limb vessels were investigated by ultrasound and flow Doppler measurements. Bilaterally, 2 posterior tibial arteries were located medially and laterally, respectively, each ending in a separate plantar arcade supplying the toes with at least 1 vessel between every metatarsus. The anterior tibial artery was also duplicated and located in front of each of the 2 identical zeugopods ending in 2 sets of dorsal arcades. An additional and larger vessel was located between the 2 sets of duplicated vessels. These findings suggested that vessel formation in the lower limb is closely linked to the early patterning of the posteriorly located fibula and not tibia, which may seem surprising in the light of the anatomic nomenclature (e.g., of the anterior and posterior tibial artery). Marino-Enriquez et al. (2008) reported a female infant born at 33-weeks' gestation with multiple anomalies suggestive of LSS and who died at age 45 minutes. Postmortem examination showed abnormal face with prominent forehead, flat nose, hypertelorism, deep longitudinal groove in the columella, and inverse V-shaped mouth. There was polysyndactyly of the hands and feet with symmetric configuration and fusion of the nails. There were 7 metacarpals in each hand and foot. One foot had 12 toes, and the other had 11 toes, and both feet had an additional finger-shaped appendage on the internal aspect. Both tibiae were shorter than the fibulae; the forearm bones showed no abnormalities. Brain anomalies included absence of the olfactory sulci, ventricular dilatation, ectopic neurons, and diffuse gliosis. In a review of reports of the disorder, Marino-Enriquez et al. (2008) noted marked heterogeneity in the terminology and classification of polydactyly. The authors proposed that the entity LSS only be used in cases with symmetric tetramelic polysyndactyly, especially 'cup-shaped' hands and mirror feet, in association with nasal anomalies. - Segmental Laurin-Sandrow Syndrome Innis and Hedera (2004) reported 2 unrelated boys with isolated left mirror hand and ulnar duplication. One patient had preaxial polydactyly of the left hand and limited flexion and extension of the left elbow and wrist. The left hand had 8 fingers and no thumb. Radiographic analysis showed absence of the radius and ulnar duplication; the left shoulder and upper arm were normal. The second child had a flexed wrist with 7 digits on the left hand and no thumb. Radiographic analysis of the left upper limb showed 2 ulnae and 7 triphalangeal digits. His father had a unilateral clubfoot and his mother had a mild hallux valgus. Neither child had nasal abnormalities. Innis and Hedera (2004) suggested that these patients had 'segmental' Laurin-Sandrow syndrome due to somatic mutation involving the precursor cells of the left upper limb.

Symptoms & Signs

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