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Broad skull

MedGen UID:
98413
Concept ID:
C0424693
Finding
Synonyms: Broad cranium; Increased width of cranium; Increased width of skull; Wide cranium; Wide skull
SNOMED CT: Broad skull (248374004)
 
HPO: HP:0002682

Definition

Increased width of the skull. [from HPO]

Conditions with this feature

Achard syndrome
MedGen UID:
272277
Concept ID:
C1332135
Disease or Syndrome
A rare genetic syndrome featuring connective tissue abnormalities. Clinical signs include brachycephaly, arachnodactyly, receding mandible and joint laxity at the hands and feet.
CODAS syndrome
MedGen UID:
333031
Concept ID:
C1838180
Disease or Syndrome
CODAS is an acronym for cerebral, ocular, dental, auricular, and skeletal anomalies. CODAS syndrome is a rare disorder characterized by a distinctive constellation of features that includes developmental delay, craniofacial anomalies, cataracts, ptosis, median nasal groove, delayed tooth eruption, hearing loss, short stature, delayed epiphyseal ossification, metaphyseal hip dysplasia, and vertebral coronal clefts (summary by Strauss et al., 2015).
Weill-Marchesani syndrome 2, dominant
MedGen UID:
358388
Concept ID:
C1869115
Disease or Syndrome
Weill-Marchesani syndrome (WMS) is a connective tissue disorder characterized by abnormalities of the lens of the eye, short stature, brachydactyly, joint stiffness, and cardiovascular defects. The ocular problems, typically recognized in childhood, include microspherophakia (small spherical lens), myopia secondary to the abnormal shape of the lens, ectopia lentis (abnormal position of the lens), and glaucoma, which can lead to blindness. Height of adult males is 142-169 cm; height of adult females is 130-157 cm. Autosomal recessive WMS cannot be distinguished from autosomal dominant WMS by clinical findings alone.
Weill-Marchesani syndrome 1
MedGen UID:
1637058
Concept ID:
C4552002
Disease or Syndrome
Weill-Marchesani syndrome (WMS) is a connective tissue disorder characterized by abnormalities of the lens of the eye, short stature, brachydactyly, joint stiffness, and cardiovascular defects. The ocular problems, typically recognized in childhood, include microspherophakia (small spherical lens), myopia secondary to the abnormal shape of the lens, ectopia lentis (abnormal position of the lens), and glaucoma, which can lead to blindness. Height of adult males is 142-169 cm; height of adult females is 130-157 cm. Autosomal recessive WMS cannot be distinguished from autosomal dominant WMS by clinical findings alone.

Professional guidelines

PubMed

Sedaghat AR, Fokkens WJ, Lund VJ, Hellings PW, Kern RC, Reitsma S, Toppila-Salmi S, Bernal-Sprekelsen M, Mullol J, Gevaert P, Teeling T, Alobid I, Anselmo-Lima WT, Baroody FM, Cervin A, Cohen NA, Constantinidis J, De Gabory L, Desrosiers M, Harvey RJ, Kalogjera L, Knill A, Landis BN, Meco C, Philpott CM, Ryan D, Schlosser RJ, Senior BA, Smith TL, Tomazic PV, Zhang L, Hopkins C
Rhinology 2023 Dec 1;61(6):519-530. doi: 10.4193/Rhin23.335. PMID: 37804121
Ceballos Cantu JC, Alobid I, Mullol J
Expert Rev Clin Immunol 2022 Dec;18(12):1253-1263. Epub 2022 Oct 11 doi: 10.1080/1744666X.2022.2128767. PMID: 36196875
Morrison DR, Moore LS, Walsh EM
Otolaryngol Clin North Am 2020 Oct;53(5):803-810. Epub 2020 Jul 15 doi: 10.1016/j.otc.2020.05.009. PMID: 32682533

Recent clinical studies

Diagnosis

Roche PH, Figarella-Branger D, Pellet W
Acta Neurochir (Wien) 2004 Jan;146(1):69-72; discussion 72. Epub 2003 Dec 15 doi: 10.1007/s00701-003-0153-8. PMID: 14740268

Therapy

Roche PH, Figarella-Branger D, Pellet W
Acta Neurochir (Wien) 2004 Jan;146(1):69-72; discussion 72. Epub 2003 Dec 15 doi: 10.1007/s00701-003-0153-8. PMID: 14740268

Prognosis

Roche PH, Figarella-Branger D, Pellet W
Acta Neurochir (Wien) 2004 Jan;146(1):69-72; discussion 72. Epub 2003 Dec 15 doi: 10.1007/s00701-003-0153-8. PMID: 14740268

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