Mandibulofacial Dysostosis
[…] downslanting palpebral fissures extending to the temples, a broad nasal base, anteverted nares, small, posteriorly rotated ears, a long, smooth philtrum, a thin upper lip, striking macrostomia[ncbi.nlm.nih.gov]
[…] characteristics are represented by down slanting palpebral fissures, coloboma of the eyelid, micrognathia, microtia and other deformity of the ears, hypoplastic zygomatic arches, and macrostomia[ncbi.nlm.nih.gov]
[…] outward and downward with notches or colobomas in the outer third of the lower lids, bony defects or hypoplasia of malar and zygomatic bones, hypoplasia of the mandible, macrostomia[medical-dictionary.thefreedictionary.com]
Simpson Dysmorphia Syndrome
SGBS type 2. [1] [2] People with SGBS typically have distinctive facial features, including a large distance between the eyes ( hypertelorism ), an unusually wide mouth ( macrostomia[rarediseases.info.nih.gov]
Simpson Golabi Behmel Syndrome (SGBS) is an X-linked overgrowth syndrome with coarse craniofacial features that include hypertelorism, epicanthal folds, macrostomia, macroglossia[oxfordmedicine.com]
, broad great toes, overlapping second and third toes pCME3(Belgium) / / Pre- and postnatal overgrowth, macrocephaly, macrostomia, mild mental retardation OG004(The Netherlands[doi.org]
Mucopolysaccharidosis
2015 ICD-9-CM Diagnosis Code 277.5 Mucopolysaccharidosis 2015 Billable Thru Sept 30/2015 Non-Billable On/After Oct 1/2015 ICD-9-CM 277.5 is a billable medical code that can be used to indicate a diagnosis on a reimbursement claim, however, 277.5 should only be used for claims with a date of service on or before[…][icd9data.com]
Goldenhar Syndrome
[…] preauricular appendages, preauricular fistulas, ear asymmetry, microtia, atresia of the external auditory canal), craniofacial deformities (cleft face, cleft lip, cleft palate, macrostomia[ncbi.nlm.nih.gov]
Fig. 8: Convergent strabismus, matted eye lashes, macrostomia, and pyoderma.[healio.com]
The additional features seen in this case are macrostomia and small projections on the cheek on the left side.[ijo.in]
Angelman Syndrome
Most patients of this age group show at least 8 of the major characteristics (bursts of laughter, happy disposition, hyperactive behaviour, microcephaly, brachycephaly, macrostomia[ncbi.nlm.nih.gov]
Moreover, she had facial dysmorphic features such as microbrachycephaly, mid-facial hypoplasia, macrostomia and prominent mandible.[ncbi.nlm.nih.gov]
Generally from 1 year of age, the typical features of AS develop: severe intellectual deficit, absent speech, outbursts of laughter with hand flapping, microcephaly, macrostomia[orpha.net]
Baraitser-Winter Syndrome 1
Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation and CNS structural anomalies: defining the phenotype.[ncbi.nlm.nih.gov]
Guion-Almeida ML, Richieri-Costa A : Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation and CNS structural anomalies:[doi.org]
Guion-Almeida ML , Richieri-Costa A : Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation and CNS structural anomalies:[nature.com]
Waldenstrom Macroglobulinemia
Abstract Waldenstrom’s disease is a lymphoproliferative disorder that is typically treated with plasmapheresis and/or alkylating agents. In young patients, other lymphoproliferative disorders have been treated with allogeneic transplantation. Two patients with aggressive Waldenstrom’s disease, who progressed in spite[…][doi.org]
Pitt-Hopkins Syndrome
Mental retardation, macrostomia and hyperpnoea syndrome. J Paediatr Child Health 1993; 29 (2) 156-157 3 Van Balkom ID, Quartel S, Hennekam RC.[doi.org]
PubMed Google Scholar Singh HA: Mental retardation, macrostomia and hyperpnoea syndrome. J Paediatr Child Health. 1993, 29: 156-157. 10.1111/j.1440-1754.1993.tb00472.x.[ijponline.net]
Singh HA (1993) Mental retardation, macrostomia and hyperpnoea syndrome. J Paediatr Child Health 29:156–157 [ PubMed ] [ Google Scholar ] 5.[ncbi.nlm.nih.gov]
Coffin-Lowry Syndrome
Abstract The Coffin–Lowry syndrome (CLS) is a rare X‐linked semidominant syndrome characterized by severe psychomotor retardation, facial dysmorphism, digit abnormalities and progressive skeletal deformations. CLS is caused by mutations in a gene located in Xp22.2, RPS6KA3. This gene encodes for a growth[…][doi.org]
Pallister-Killian Syndrome
[…] syndrome presents with a recognizable pattern of findings including: pigmentary skin changes, characteristic facial features (sparse anterior scalp hair, flattened midface, macrostomia[ncbi.nlm.nih.gov]