Myhre syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE
LAPS SYNDROME
LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE
MYHRS
Facial dysmorphism - intellectual deficit - short stature - hearing loss
Number of Symptoms 104
OrphanetNr: 2588
OMIM Id: 139210
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 16 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000028) Cryptorchidism 347 / 7739
2
 (HPO:0000047) Hypospadias Occasional [Orphanet] 250 / 7739
3
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
4
 (HPO:0000140) Abnormality of the menstrual cycle 7 / 7739
5
 (HPO:0000252) Microcephaly 832 / 7739
6
 (HPO:0000470) Short neck 345 / 7739
7
 (HPO:0000204) Cleft upper lip Occasional [Orphanet] 193 / 7739
8
 (HPO:0000202) Oral cleft rare [HPO:skoehler] 120 / 7739
9
 (HPO:0000574) Thick eyebrow 96 / 7739
10
 (HPO:0000322) Short philtrum Very frequent [Orphanet] 130 / 7739
11
 (HPO:0000303) Mandibular prognathia Very frequent [Orphanet] 179 / 7739
12
 (HPO:0000160) Narrow mouth Very frequent [Orphanet] 188 / 7739
13
 (HPO:0000233) Thin vermilion border Very frequent [Orphanet] 124 / 7739
14
 (HPO:0000327) Hypoplasia of the maxilla Very frequent [Orphanet] 129 / 7739
15
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
16
 (HPO:0000528) Anophthalmia 42 / 7739
17
 (HPO:0000426) Prominent nasal bridge 121 / 7739
18
 (HPO:0000316) Hypertelorism 644 / 7739
19
 (HPO:0000490) Deeply set eye 131 / 7739
20
 (HPO:0002684) Thickened calvaria 32 / 7739
21
 (HPO:0000568) Microphthalmia rare [HPO:skoehler] 183 / 7739
22
 (HPO:0011478) True anophthalmia 17 / 7739
23
 (HPO:0000272) Malar flattening 277 / 7739
24
 (HPO:0011800) Midface retrusion Very frequent [Orphanet] 221 / 7739
25
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
26
 (HPO:0000581) Blepharophimosis Frequent [Orphanet] 197 / 7739
27
 (HPO:0004437) Cranial hyperostosis Very frequent [Orphanet] 55 / 7739
28
 (HPO:0000540) Hypermetropia Frequent [Orphanet] 99 / 7739
29
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
30
 (HPO:0000486) Strabismus 576 / 7739
31
 (HPO:0000508) Ptosis Frequent [Orphanet] 459 / 7739
32
 (HPO:0008551) Microtia 98 / 7739
33
 (HPO:0000369) Low-set ears 372 / 7739
34
 (HPO:0000365) Hearing impairment Very frequent [Orphanet] 539 / 7739
35
 (HPO:0001249) Intellectual disability 1089 / 7739
36
 (HPO:0000717) Autism 108 / 7739
37
 (HPO:0001250) Seizures 1245 / 7739
38
 (HPO:0000708) Behavioral abnormality Occasional [Orphanet] 212 / 7739
39
 (HPO:0001251) Ataxia rare [HPO:skoehler] 413 / 7739
40
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
41
 (HPO:0000826) Precocious puberty Occasional [Orphanet] 42 / 7739
42
 (HPO:0008373) Puberty and gonadal disorders Occasional [Orphanet] 156 / 7739
43
 (HPO:0001845) Overlapping toe 18 / 7739
44
 (HPO:0002948) Vertebral fusion 28 / 7739
45
 (HPO:0000885) Broad ribs 21 / 7739
46
 (HPO:0010579) Cone-shaped epiphysis 54 / 7739
47
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
48
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
49
 (HPO:0009466) Radial deviation of finger 101 / 7739
50
 (HPO:0004691) 2-3 toe syndactyly 50 / 7739
51
 (HPO:0001831) Short toe 52 / 7739
52
 (HPO:0005930) Abnormality of epiphysis morphology Frequent [Orphanet] 119 / 7739
53
 (HPO:0012385) Camptodactyly 113 / 7739
54
 (HPO:0005679) Dupuytren contracture 3 / 7739
55
 (HPO:0000944) Abnormality of the metaphyses Frequent [Orphanet] 141 / 7739
56
 (HPO:0000772) Abnormality of the ribs Very frequent [Orphanet] 146 / 7739
57
 (HPO:0004621) Enlarged vertebral pedicles 2 / 7739
58
 (HPO:0002866) Hypoplastic iliac wing 34 / 7739
59
 (HPO:0003026) Short long bone 51 / 7739
60
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
61
 (HPO:0000926) Platyspondyly Very frequent [Orphanet] 150 / 7739
62
 (HPO:0001376) Limitation of joint mobility 27 / 7739
63
 (HPO:0009381) Short finger 45 / 7739
64
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
65
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
66
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
67
 (HPO:0001513) Obesity rare [HPO:skoehler] 172 / 7739
68
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
69
 (HPO:0002213) Fine hair 77 / 7739
70
 (HPO:0008070) Sparse hair 94 / 7739
71
 (HPO:0001072) Thickened skin Frequent [Orphanet] 87 / 7739
72
 (HPO:0001650) Aortic valve stenosis 49 / 7739
73
 (HPO:0001680) Coarctation of aorta 57 / 7739
74
 (HPO:0000822) Hypertension Frequent [Orphanet] 224 / 7739
75
 (HPO:0001643) Patent ductus arteriosus 228 / 7739
76
 (HPO:0004760) Congenital septal defect Frequent [Orphanet] 69 / 7739
77
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
78
 (HPO:0001698) Pericardial effusion 20 / 7739
79
 (HPO:0001671) Abnormality of the cardiac septa 55 / 7739
80
 (HPO:0002093) Respiratory insufficiency rare [HPO:skoehler] 410 / 7739
81
 (HPO:0002878) Respiratory failure rare [HPO:skoehler] 57 / 7739
82
 (HPO:0004894) Laryngotracheal stenosis 2 / 7739
83
 (HPO:0001608) Abnormality of the voice 126 / 7739
84
 (HPO:0003712) Skeletal muscle hypertrophy Very frequent [Orphanet] 42 / 7739
85
 (HPO:0003457) EMG abnormality Frequent [Orphanet] 78 / 7739
86
 (HPO:0003720) Generalized muscle hypertrophy 8 / 7739
87
 (OMIM) Stiff skin 31 / 7739
88
 (OMIM) Autism or autistic-like condition 1 / 7739
89
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
90
 (OMIM) Large, flattened vertebrae with large pedicles 1 / 7739
91
 (OMIM) Cerebellar atrophy, progressive 6 / 7739
92
 (OMIM) Sparse, fine hair 4 / 7739
93
 (OMIM) Incomplete jaw opening 1 / 7739
94
 (OMIM) Pericardial fibrosis, requiring pericardiectomy 1 / 7739
95
 (OMIM) Laryngotracheal stenosis, recurrent 1 / 7739
96
 (MedDRA:10072883) Brachydactyly 153 / 7739
97
 (HPO:0030084) Clinodactyly 90 / 7739
98
 (OMIM) Anomalous middle ear bones 1 / 7739
99
 (OMIM) Broad mid-nose 1 / 7739
100
 (OMIM) Deafness, early-onset mixed conductive and sensorineural 1 / 7739
101
 (HPO:0030053) Stiff skin 3 / 7739
102
 (MedDRA:10058668) Clinodactyly 91 / 7739
103
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
104
 (OMIM) Narrow alar root 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Myhre syndrome is a rare disorder characterized by mental retardation, dysmorphic facial features, including microcephaly, midface hypoplasia, prognathism, and blepharophimosis, as well as typical skeletal anomalies, including short stature, square body shape, broad ribs, iliac hypoplasia, brachydactyly, flattened ...
Clinical Description OMIM Myhre et al. (1981) described 2 unrelated males with a characteristic syndrome. In addition to mental retardation, the patients, aged 24 and 18 years, showed pre- and postnatal growth deficiency (adult heights 140 and 146 cm), unusual facies ...
Molecular genetics OMIM In all 11 patients with Myhre syndrome tested, Le Goff et al. (2012) identified a heterozygous de novo mutation involving the same codon, ile500, of the SMAD4 gene (I500T, 600993.0015; I500V, 600993.00016; and I500M, 600993.0017). The mutations were ...