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Parietal foramina with cleidocranial dysplasia(PFMCCD)

MedGen UID:: 401479
•Concept ID:: C1868597
•: Disease or Syndrome

Synonym:	PFMCCD
SNOMED CT:	Parietal foramina with clavicular hypoplasia (771338002); Parietal foramina with cleidocranial dysplasia (771338002)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	MSX2 (5q35.2)

Monarch Initiative:	MONDO:0008198
OMIM®:	168550
Orphanet:	ORPHA251290

Disease characteristics

Excerpted from the GeneReview: Enlarged Parietal Foramina

Enlarged parietal foramina are characteristic symmetric, paired radiolucencies of the parietal bones, located close to the intersection of the sagittal and lambdoid sutures, caused by deficient ossification around the parietal notch, which is normally obliterated by the fifth month of fetal development. Enlarged parietal foramina are usually asymptomatic. Meningeal, cortical, and vascular malformations of the posterior fossa occasionally accompany the bone defects and may predispose to epilepsy. In a minority of individuals, headaches, vomiting, or intense local pain are sometimes associated with the defects, especially on application of mild pressure to the unprotected cerebral cortex. [from GeneReviews]

Authors:
Lampros A Mavrogiannis | Andrew OM Wilkie view full author information

Clinical features

From HPO

Microtia

MedGen UID:: 57535
•Concept ID:: C0152423
•: Congenital Abnormality

Underdevelopment of the external ear.

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Parietal foramina

MedGen UID:: 526951
•Concept ID:: C0222706
•: Body Space or Junction

The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide.

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Short clavicles

MedGen UID:: 96529
•Concept ID:: C0426799
•: Congenital Abnormality

Reduced length of the clavicles.

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Widely patent fontanelles and sutures

MedGen UID:: 336570
•Concept ID:: C1849300
•: Finding

An abnormally increased width of the cranial fontanelles and sutures.

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Macrocephaly

MedGen UID:: 745757
•Concept ID:: C2243051
•: Finding

Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.

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Dermoid cyst

MedGen UID:: 41504
•Concept ID:: C0011649
•: Neoplastic Process

A congenital subcutaneous cyst that arises from entrapment of skin along the lines of embryonic fusion. In contrast to epidermal cysts, dermoid cysts tend to contain various adnexal structures such as hair, sebaceous, eccrine or apocrine glands. Dermoid cysts are present at birth, and are indolent, firm, deep, subcutaneous nodules. They are often located on the head and neck, and rarely in the anogenital area. Dermoid cysts are slowly progressive and can grow to a size of 1 to 4 cm.

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Abnormality of the integument
- Dermoid cyst
Abnormality of the musculoskeletal system
Ear malformation
- Microtia

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVParietal foramina with cleidocranial dysplasia

Cleidocranial dysplasia and isolated cranial ossification defect
- Parietal foramina with cleidocranial dysplasia

Follow this link to review classifications for Parietal foramina with cleidocranial dysplasia in Orphanet.

Recent clinical studies

Etiology

Radiographic manifestations of congenital anomalies of the skull.

Kaplan SB, Kemp SS, Oh KS
Radiol Clin North Am 1991 Mar;29(2):195-218. PMID: 1998047

See all (1)

Diagnosis

Radiographic manifestations of congenital anomalies of the skull.

Kaplan SB, Kemp SS, Oh KS
Radiol Clin North Am 1991 Mar;29(2):195-218. PMID: 1998047

See all (1)

Prognosis

Radiographic manifestations of congenital anomalies of the skull.

Kaplan SB, Kemp SS, Oh KS
Radiol Clin North Am 1991 Mar;29(2):195-218. PMID: 1998047

See all (1)

Clinical prediction guides

Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2.

Garcia-Miñaur S, Mavrogiannis LA, Rannan-Eliya SV, Hendry MA, Liston WA, Porteous ME, Wilkie AO
Eur J Hum Genet 2003 Nov;11(11):892-5. doi: 10.1038/sj.ejhg.5201062. PMID: 14571277

Radiographic manifestations of congenital anomalies of the skull.

Kaplan SB, Kemp SS, Oh KS
Radiol Clin North Am 1991 Mar;29(2):195-218. PMID: 1998047

See all (2)

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Parietal foramina with cleidocranial dysplasia(PFMCCD)

Disease characteristics

Clinical features

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

Consumer resources

Reviews

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