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Maxillo-nasal dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs:	binder syndrome Maxillo-nasal dysostosis
Number of Symptoms	31
OrphanetNr:	1248
OMIM Id:	155050
ICD-10:	Q75.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	No data available.
Inheritance:	Autosomal dominant Autosomal recessive Multifactorial [Orphanet]
Age of onset:	Neonatal [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
Syndrome or malformation associated with head and neck malformations
-Rare developmental defect during embryogenesis
-Rare genetic disease
-Rare maxillo-facial surgical disease
-Rare otorhinolaryngologic 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:0005280)	Depressed nasal bridge	Very frequent [Orphanet]	381 / 7739
2	(HPO:0000691)	Microdontia	Frequent [Orphanet]	104 / 7739
3	(HPO:0009924)	Aplasia/Hypoplasia involving the nose	Very frequent [Orphanet]	18 / 7739
4	(HPO:0000174)	Abnormality of the palate	Frequent [Orphanet]	298 / 7739
5	(HPO:0011800)	Midface retrusion	Very frequent [Orphanet]	221 / 7739
6	(HPO:0002000)	Short columella		11 / 7739
7	(HPO:0000457)	Depressed nasal ridge	Very frequent [Orphanet]	85 / 7739
8	(HPO:0012368)	Flat face	Very frequent [Orphanet]	106 / 7739
9	(HPO:0000327)	Hypoplasia of the maxilla	Very frequent [Orphanet]	129 / 7739
10	(HPO:0000436)	Abnormality of the nasal tip	Very frequent [Orphanet]	18 / 7739
11	(HPO:0009804)	Reduced number of teeth	Frequent [Orphanet]	137 / 7739
12	(HPO:0000303)	Mandibular prognathia	Occasional [Orphanet]	179 / 7739
13	(HPO:0009933)	Narrow naris	Frequent [Orphanet]	16 / 7739
14	(HPO:0003196)	Short nose		264 / 7739
15	(HPO:0000689)	Dental malocclusion	Frequent [Orphanet]	114 / 7739
16	(HPO:0009748)	Large earlobe		27 / 7739
17	(HPO:0008428)	Vertebral clefting		4 / 7739
18	(HPO:0003312)	Abnormal form of the vertebral bodies	Frequent [Orphanet]	172 / 7739
19	(HPO:0002650)	Scoliosis	Frequent [Orphanet]	705 / 7739
20	(HPO:0009882)	Short distal phalanx of finger	Frequent [Orphanet]	125 / 7739
21	(HPO:0004609)	Patchy distortion of vertebrae		1 / 7739
22	(HPO:0010655)	Epiphyseal stippling	Frequent [Orphanet]	32 / 7739
23	(HPO:0011305)	Partial absence of toe	Occasional [Orphanet]	18 / 7739
24	(HPO:0011892)	Vitamin K deficiency	Very frequent [Orphanet]	4 / 7739
25	(OMIM)	Acute nasolabial angle		1 / 7739
26	(OMIM)	Convex upper lip		1 / 7739
27	(OMIM)	Lack of anterior nasal spine		1 / 7739
28	(HPO:0001425)	Heterogeneous		132 / 7739
29	(OMIM)	Perialar flatness		1 / 7739
30	(OMIM)	Midfacial hypoplasia		3 / 7739
31	(OMIM)	Maxillonasal dysplasia		1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

Binder (1962) described a syndrome of maxillonasal dysplasia characterized by a short nose with a flat bridge, a short columella, an acute nasolabial angle, perialar flatness, a convex upper lip, and a tendency to an angle class III ... Binder (1962) described a syndrome of maxillonasal dysplasia characterized by a short nose with a flat bridge, a short columella, an acute nasolabial angle, perialar flatness, a convex upper lip, and a tendency to an angle class III malocclusion. Critical features of the syndrome appear to be midfacial hypoplasia, lack of anterior nasal spine, and malocclusion. Sheffield et al. (1989) reviewed 103 cases of chondrodysplasia punctata (CDP; see 215100) seen in Melbourne over a 20-year period. They concluded that Binder syndrome should be classified as a mild form of CDP. Sheffield et al. (1991) pointed out that most patients with Binder syndrome seek medical attention in adolescence; by this age, the diagnostic radiologic features of chondrodysplasia punctata have disappeared and so the diagnosis of CDP is often not considered. Older patients may show terminal phalangeal hypoplasia of the hand, sometimes only in some digits, and patchy distortion of vertebrae, a residuum of vertebral clefting. Some of the patients labeled as Binder phenotype in a craniofacial unit had a maternal history of warfarin ingestion during pregnancy (see 118650). Quarrell et al. (1990) reported a case and reviewed the clinical features, concluding that the disorder does not represent a single nosologic entity and that the use of the word syndrome or the word dysplasia is inappropriate. They suggested that the phenotype be considered an 'association.' Gross-Kieselstein et al. (1986) reported an affected mother and daughter. Olow-Nordenram and Radberg (1984) reported the syndrome in mother and daughter also. Roy-Doray et al. (1997) described Binder syndrome in a mother and her son. The mother was the last-born of 7 children; her mother was 40 and her father 49 at the time of her birth. The parents were unaffected and unrelated; the other children were normal. The son was strikingly affected. Photographs of both patients as infants and of the mother at age 19 were provided. The Keutel syndrome (245150) shares some features with Binder syndrome, such as midfacial hypoplasia. Munroe et al. (1999) suggested that Binder syndrome might be an allelic variant of Keutel syndrome, which has been shown to be due to mutations in the gene encoding matrix Gla protein (MGP; 154870).

Symptoms & Signs

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