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Facial capillary hemangioma

MedGen UID:
347662
Concept ID:
C1858545
Finding
HPO: HP:0000996

Definition

Hemangioma, a benign tumor of the vascular endothelial cells with small endothelial spaces, occurring in the face. [from HPO]

Conditions with this feature

Smith-Lemli-Opitz syndrome
MedGen UID:
61231
Concept ID:
C0175694
Disease or Syndrome
Smith-Lemli-Opitz syndrome (SLOS) is a congenital multiple-anomaly / cognitive impairment syndrome caused by an abnormality in cholesterol metabolism resulting from deficiency of the enzyme 7-dehydrocholesterol (7-DHC) reductase. It is characterized by prenatal and postnatal growth restriction, microcephaly, moderate-to-severe intellectual disability, and multiple major and minor malformations. The malformations include distinctive facial features, cleft palate, cardiac defects, underdeveloped external genitalia in males, postaxial polydactyly, and 2-3 syndactyly of the toes. The clinical spectrum is wide; individuals with normal development and only minor malformations have been described.
Radial aplasia-thrombocytopenia syndrome
MedGen UID:
61235
Concept ID:
C0175703
Disease or Syndrome
Thrombocytopenia absent radius (TAR) syndrome is characterized by bilateral absence of the radii with the presence of both thumbs, and thrombocytopenia that is generally transient. Thrombocytopenia may be congenital or may develop within the first few weeks to months of life; in general, thrombocytopenic episodes decrease with age. Cow's milk allergy is common and can be associated with exacerbation of thrombocytopenia. Other anomalies of the skeleton (upper and lower limbs, ribs, and vertebrae), heart, and genitourinary system (renal anomalies and agenesis of uterus, cervix, and upper part of the vagina) can occur.
Intellectual disability-brachydactyly-Pierre Robin syndrome
MedGen UID:
325196
Concept ID:
C1837564
Disease or Syndrome
Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis syndrome characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness.
Blepharophimosis - intellectual disability syndrome, Verloes type
MedGen UID:
347661
Concept ID:
C1858538
Disease or Syndrome
Blepharophimosis-intellectual disability syndrome, Verloes type is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, severe epilepsy with hypsarrhythmia, adducted thumbs, abnormal genitalia, and normal thyroid function. Hypotonia, moderate to severe psychomotor delay, and characteristic facial dysmorphism (including round face with prominent cheeks, blepharophimosis, large, bulbous nose with wide alae nasi, posteriorly rotated ears with dysplastic conchae, narrow mouth, cleft palate, and mild micrognathia) are additional characteristic features.
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures
MedGen UID:
1840880
Concept ID:
C5830244
Disease or Syndrome
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures (NEDFSS), is characterized by these features and global developmental delay with delayed or absent walking, moderate to severely impaired intellectual development, and poor or absent speech acquisition. Affected individuals may also have behavioral abnormalities. About half of patients develop various types of seizures that are usually well-controlled with medication. Rare patients are noted to have heat intolerance or insensitivity to pain (Lines et al., 2022).

Professional guidelines

PubMed

Satterfield KR, Chambers CB
Surv Ophthalmol 2019 Sep-Oct;64(5):608-618. Epub 2019 Feb 14 doi: 10.1016/j.survophthal.2019.02.005. PMID: 30772366
Xu MN, Zhang M, Xu Y, Wang M, Yuan SM
J Craniofac Surg 2018 Oct;29(7):1876-1879. doi: 10.1097/SCS.0000000000004745. PMID: 30052610
Menapace D, Mitkov M, Towbin R, Hogeling M
Pediatr Radiol 2016 Oct;46(11):1494-506. Epub 2016 Jul 23 doi: 10.1007/s00247-016-3643-6. PMID: 27450406

Recent clinical studies

Diagnosis

Murthy R, Naik MN, Desai S, Honavar SG
Strabismus 2009 Apr-Jun;17(2):75-7. doi: 10.1080/09273970902798490. PMID: 19551563
Chugani HT, Mazziotta JC, Phelps ME
J Pediatr 1989 Feb;114(2):244-53. doi: 10.1016/s0022-3476(89)80790-5. PMID: 2783735

Therapy

Murthy R, Naik MN, Desai S, Honavar SG
Strabismus 2009 Apr-Jun;17(2):75-7. doi: 10.1080/09273970902798490. PMID: 19551563

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