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Orofaciodigital syndrome type 2

General Information (adopted from Orphanet):

Synonyms, Signs:	ORAL-FACIAL-DIGITAL SYNDROME, TYPE II OROFACIODIGITAL SYNDROME II OFDS II OFD2 Mohr syndrome Oral-facial-digital syndrome type 2
Number of Symptoms	62
OrphanetNr:	2751
OMIM Id:	252100
ICD-10:	Q87.0
UMLs:	C0026363 C2931889
MeSH:	C538585
MedDRA:
Snomed:	1779005

Prevalence, inheritance and age of onset:

Prevalence:	No data available.
Inheritance:	Autosomal recessive [Orphanet]
Age of onset:	Neonatal Infancy [Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases:

Orofaciodigital syndrome
-Rare bone disease
-Rare developmental defect during embryogenesis
-Rare genetic disease
-Rare maxillo-facial surgical disease
-Rare otorhinolaryngologic disease
Rare genetic intellectual deficit with developmental anomaly
-Rare genetic disease
Rare intellectual deficit with developmental anomaly
-Rare neurologic disease
Syndromic genetic deafness
-Rare developmental defect during embryogenesis
-Rare genetic disease
-Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0000078)	Abnormality of the genital system	Occasional [Orphanet]	33 / 7739
2	(HPO:0000366)	Abnormality of the nose	Frequent [Orphanet]	56 / 7739
3	(HPO:0002645)	Wormian bones	occasional [HPO]	65 / 7739
4	(HPO:0000174)	Abnormality of the palate	Occasional [Orphanet]	298 / 7739
5	(HPO:0000347)	Micrognathia	typical [HPO]	426 / 7739
6	(HPO:0005105)	Abnormal nasal morphology	Frequent [Orphanet]	114 / 7739
7	(HPO:0000431)	Wide nasal bridge	Very frequent [Orphanet]	290 / 7739
8	(HPO:0000272)	Malar flattening	typical [HPO]	277 / 7739
9	(HPO:0002705)	High, narrow palate	Frequent [Orphanet]	308 / 7739
10	(HPO:0000191)	Accessory oral frenulum	typical [HPO]	6 / 7739
11	(HPO:0000161)	Median cleft lip	Frequent [Orphanet] typical [HPO]	27 / 7739
12	(HPO:0000316)	Hypertelorism		644 / 7739
13	(HPO:0000455)	Broad nasal tip	typical [HPO]	67 / 7739
14	(HPO:0000180)	Lobulated tongue	typical [HPO]	8 / 7739
15	(HPO:0000218)	High palate	occasional [HPO]	356 / 7739
16	(HPO:0005280)	Depressed nasal bridge	typical [HPO]	381 / 7739
17	(HPO:0000327)	Hypoplasia of the maxilla	typical [HPO]	129 / 7739
18	(HPO:0006289)	Agenesis of central incisor	occasional [HPO]	3 / 7739
19	(HPO:0000456)	Bifid nasal tip	typical [HPO]	11 / 7739
20	(HPO:0009804)	Reduced number of teeth	Frequent [Orphanet]	137 / 7739
21	(HPO:0010297)	Bifid tongue	Very frequent [Orphanet] typical [HPO]	17 / 7739
22	(HPO:0000506)	Telecanthus	Very frequent [Orphanet] typical [HPO]	156 / 7739
23	(HPO:0000199)	Tongue nodules	typical [HPO]	5 / 7739
24	(HPO:0000175)	Cleft palate	occasional [HPO]	349 / 7739
25	(HPO:0000405)	Conductive hearing impairment	Very frequent [Orphanet] typical [HPO]	164 / 7739
26	(HPO:0001291)	Abnormality of the cranial nerves	Occasional [Orphanet]	27 / 7739
27	(HPO:0001250)	Seizures	Occasional [Orphanet]	1245 / 7739
28	(HPO:0006101)	Finger syndactyly	Very frequent [Orphanet]	198 / 7739
29	(HPO:0010101)	Partial duplication of the phalanges of the hallux		1 / 7739
30	(HPO:0001177)	Preaxial hand polydactyly	Occasional [Orphanet] frequent [HPO]	59 / 7739
31	(HPO:0001830)	Postaxial foot polydactyly	frequent [HPO]	37 / 7739
32	(HPO:0006136)	Bilateral postaxial polydactyly		30 / 7739
33	(HPO:0004209)	Clinodactyly of the 5th finger	Frequent [Orphanet] common [HPO]	288 / 7739
34	(HPO:0004279)	Short palm	Very frequent [Orphanet]	323 / 7739
35	(HPO:0001156)	Brachydactyly syndrome	common [HPO]	180 / 7739
36	(HPO:0001162)	Postaxial hand polydactyly	Very frequent [Orphanet] common [HPO]	119 / 7739
37	(HPO:0000944)	Abnormality of the metaphyses	Frequent [Orphanet]	141 / 7739
38	(HPO:0001841)	Preaxial foot polydactyly	common [HPO]	24 / 7739
39	(HPO:0003025)	Metaphyseal irregularity	typical [HPO]	42 / 7739
40	(HPO:0100258)	Preaxial polydactyly		39 / 7739
41	(HPO:0001163)	Abnormality of the metacarpal bones	Occasional [Orphanet]	149 / 7739
42	(HPO:0001159)	Syndactyly	occasional [HPO]	140 / 7739
43	(HPO:0003015)	Flared metaphysis	typical [HPO]	44 / 7739
44	(HPO:0002650)	Scoliosis	Occasional [Orphanet] occasional [HPO]	705 / 7739
45	(HPO:0000767)	Pectus excavatum	Occasional [Orphanet] occasional [HPO]	244 / 7739
46	(HPO:0004322)	Short stature	Very frequent [Orphanet] typical [HPO]	1232 / 7739
47	(HPO:0030680)	Abnormality of cardiovascular system morphology	Occasional [Orphanet]	355 / 7739
48	(HPO:0001601)	Laryngomalacia	Occasional [Orphanet]	61 / 7739
49	(HPO:0002777)	Tracheal stenosis	Occasional [Orphanet]	35 / 7739
50	(OMIM)	Midline cleft of tongue		1 / 7739
51	(HPO:0000238)	Hydrocephalus	Occasional [Orphanet] rare [HPO]	278 / 7739
52	(HPO:0000007)	Autosomal recessive inheritance		2538 / 7739
53	(HPO:0002132)	Porencephaly	Occasional [Orphanet] rare [HPO]	18 / 7739
54	(OMIM)	Hypertrophied frenula		1 / 7739
55	(HPO:0011420)	Death	Occasional [Orphanet]	184 / 7739
56	(OMIM)	Zygomatic arch hypoplasia		2 / 7739
57	(HPO:0012758)	Neurodevelopmental delay	Occasional [Orphanet]	949 / 7739
58	(OMIM)	Bilateral preaxial polydactyly		1 / 7739
59	(HPO:0002334)	Abnormality of the cerebellar vermis	Occasional [Orphanet]	137 / 7739
60	(MedDRA:10072883)	Brachydactyly		153 / 7739
61	(OMIM)	Extra cuneiform bone		1 / 7739
62	(OMIM)	Broad cuboid first metatarsal		1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

Norwegian geneticist Otto L. Mohr (1941), uncle of Professor Jan Mohr of Copenhagen, described a family in which 4 males of a sibship of 5 boys and 2 girls showed a syndrome which was detailed in the case ... Norwegian geneticist Otto L. Mohr (1941), uncle of Professor Jan Mohr of Copenhagen, described a family in which 4 males of a sibship of 5 boys and 2 girls showed a syndrome which was detailed in the case of 1 affected male whom he personally observed. The features were poly-, syn-, and brachydactyly, lobate tongue with papilliform protuberances, angular form of the alveolar process of the mandible, supernumerary sutures in the skull, and an episodic neuromuscular disturbance. Three of the 4 affected males had died prior to the time of report. One of these had cleft palate. Rimoin and Edgerton (1967) described 3 affected sibs, 2 male and 1 female. In addition to the different mode of inheritance, the Mohr syndrome shows none of the skin and hair changes of the X-linked oral-facial-digital syndrome I (311200), but does show conductive hearing loss and bilateral hallucal polysyndactyly not present in OFD I. Tachypnea is commonly noted in this syndrome (Gorlin, 1982). Anneren et al. (1984) gave a useful differentiation of the features of OFD I (311200) and OFD II. Gustavson et al. (1971) reported 2 affected sisters. Haumont and Pelc (1983) described 2 sisters who, in addition to the usual features of the Mohr syndrome, had the Dandy-Walker syndrome. They suggested that the association of brain abnormalities may reflect the existence of a second distinct form of the Mohr syndrome. Egger and Baraitser (1984) suggested that the sibs reported by Gustavson et al. (1971) and by Haumont and Pelc (1983) had Joubert syndrome (213300), not Mohr syndrome. Goldstein and Medina (1974) described talon cusps in Mohr syndrome. Silengo et al. (1987) presented 2 patients who they suggested lent support to the idea that Mohr syndrome and Majewski syndrome (263520) are mild and severe expressions, respectively, of the same autosomal recessive disorder. The 2 patients had features typical of OFD II or Mohr syndrome but also had laryngeal anomalies and hallucal and postaxial polysyndactyly of the feet typical of Majewski syndrome. In the latter condition, the oral/facial findings are almost identical to those of the Mohr syndrome. Gillerot and Koulischer (1988) also observed a newborn with overlapping features of the Majewski and Mohr syndromes. Reardon et al. (1989) described a boy who had features of the Mohr syndrome as well as a large arachnoid cyst compressing the cerebellum and brainstem. Typically in the Mohr syndrome, the hands show postaxial polydactyly and the feet show preaxial polydactyly. Anneren et al. (1990) described 2 patients with Mohr syndrome associated with cerebellar atrophy and found reports of 3 cases of cerebellar abnormalities in this disorder. Prpic et al. (1995) reported Mohr syndrome in 2 male sibs who had different phenotypic features. One had typical oral, facial, and digital anomalies plus hypoplastic genitalia and short limbs. He was markedly hypotonic and had convulsions and apneic episodes and died shortly after birth. His younger brother had OFD features with conductive hearing loss and normal psychomental development. He did not have syndactylous reduction of the great toes, although the toes were disproportionately large. Hsieh and Hou (1999) reported the case of a boy with pseudo-cleft of the upper lip, cleft palate, bifid uvula, lobulated tongue, hypoplasia of the epiglottis, both preaxial and central polydactyly of the hands (Y-shaped fourth metacarpals), bilateral preaxial polydactyly of the feet, postaxial polydactyly of the cleft foot, hearing impairment, and congenital heart disease with endocardial cushion defect. These clinical manifestations resembled oral-facial-digital syndrome type II or type VI (277170). They stated that to the best of their knowledge this was the first reported case of OFD type II with Y-shaped fourth metacarpals. They raised the question of whether Mohr syndrome with Y-shaped fourth metacarpals, atrioventricular canal defect, and hypoplasia of the epiglottis may represent an additional type of oral-facial-digital syndrome. Balci et al. (1999) reported 2 sisters with Mohr syndrome from a consanguineous family. One was a 3-day-old patient, and the other a 22-week-old fetus diagnosed prenatally by the ultrasound finding of gross skeletal abnormalities of the hands and feet. At autopsy, besides the typical physical abnormalities of Mohr syndrome, the fetus showed natal teeth and absence of olfactory nerve, 2 features not previously reported in this syndrome. The authors stressed that the prenatal diagnosis of Mohr syndrome is possible with early ultrasonographic examination.

Symptoms & Signs

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