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Brachyturricephaly

MedGen UID:
387833
Concept ID:
C1857484
Finding
Synonyms: High prominent forehead; High, prominent forehead; Turribrachycephaly
 
HPO: HP:0000244

Definition

Abnormal vertical height of the skull and a shortening of its anterior-posterior length, frequently combined with malformations of the occipital region. [from HPO]

Term Hierarchy

Conditions with this feature

Acrocephalosyndactyly type I
MedGen UID:
7858
Concept ID:
C0001193
Congenital Abnormality
Apert syndrome is characterized by the presence of multisuture craniosynostosis, midface retrusion, and syndactyly of the hands with fusion of the second through fourth nails. Almost all affected individuals have coronal craniosynostosis, and a majority also have involvement of the sagittal and lambdoid sutures. The midface in Apert syndrome is underdeveloped as well as retruded; a subset of affected individuals have cleft palate. The hand in Apert syndrome always includes fusion of the middle three digits; the thumb and fifth finger are sometimes also involved. Feeding issues, dental abnormalities, hearing loss, hyperhidrosis, and progressive synostosis of multiple bones (skull, hands, feet, carpus, tarsus, and cervical vertebrae) are also common. Multilevel airway obstruction may be present and can be due to narrowing of the nasal passages, tongue-based airway obstruction, and/or tracheal anomalies. Nonprogressive ventriculomegaly is present in a majority of individuals, with a small subset having true hydrocephalus. Most individuals with Apert syndrome have normal intelligence or mild intellectual disability; moderate-to-severe intellectual disability has been reported in some individuals. A minority of affected individuals have structural cardiac abnormalities, true gastrointestinal malformations, and anomalies of the genitourinary tract.
Pfeiffer syndrome
MedGen UID:
67390
Concept ID:
C0220658
Disease or Syndrome
Pfeiffer syndrome is an autosomal dominant craniosynostosis syndrome with characteristic anomalies of the hands and feet. Three clinical subtypes, which have important diagnostic and prognostic implications, have been identified. Type 1, the classic syndrome, is compatible with life and consists of craniosynostosis, midface deficiency, broad thumbs, broad great toes, brachydactyly, and variable syndactyly. Type 2 consists of cloverleaf skull with Pfeiffer hands and feet, together with ankylosis of the elbows. Type 3 is similar to type 2 but without cloverleaf skull. Ocular proptosis is severe, and the anterior cranial base is markedly short. Various visceral malformations have been found in association with type 3. Early demise is characteristic of types 2 and 3 (Cohen, 1993). Cohen and Barone (1994) further tabulated the findings in the 3 types of Pfeiffer syndrome.
Baller-Gerold syndrome
MedGen UID:
120532
Concept ID:
C0265308
Disease or Syndrome
Baller-Gerold syndrome (BGS) can be suspected at birth in an infant with craniosynostosis and upper limb abnormality. The coronal suture is most commonly affected; the metopic, lambdoid, and sagittal sutures may also be involved alone or in combination. Upper limb abnormality can include a combination of thumb hypo- or aplasia and radial hypo- or aplasia and may be asymmetric. Malformation or absence of carpal or metacarpal bones has also been described. Skin lesions may appear anytime within the first few years after birth, typically beginning with erythema of the face and extremities and evolving into poikiloderma. Slow growth is apparent in infancy with eventual height and length typically at 4 SD below the mean.
Shprintzen-Goldberg syndrome
MedGen UID:
231160
Concept ID:
C1321551
Disease or Syndrome
Shprintzen-Goldberg syndrome (SGS) is characterized by: delayed motor and cognitive milestones and mild-to-moderate intellectual disability; craniosynostosis of the coronal, sagittal, or lambdoid sutures; distinctive craniofacial features; and musculoskeletal findings including olichostenomelia, arachnodactyly, camptodactyly, pectus excavatum or carinatum, scoliosis, joint hypermobility or contractures, pes planus, foot malposition, and C1-C2 spine malformation. Cardiovascular anomalies may include mitral valve prolapse, secundum atrial septal defect, and aortic root dilatation. Minimal subcutaneous fat, abdominal wall defects, and myopia are also characteristic findings.
Microphthalmia with cyst, bilateral facial clefts, and limb anomalies
MedGen UID:
375210
Concept ID:
C1843492
Disease or Syndrome
Uruguay Faciocardiomusculoskeletal syndrome
MedGen UID:
335320
Concept ID:
C1846010
Disease or Syndrome
Uruguay faciocardiomusculoskeletal syndrome (FCMSU) is an X-linked disorder in which affected males have a distinctive facial appearance, muscular hypertrophy, and cardiac ventricular hypertrophy leading to premature death. Additional features include large, broad, and deformed hands and feet, congenital hip dislocation, and scoliosis (summary by Xue et al., 2016).
Lethal osteosclerotic bone dysplasia
MedGen UID:
342416
Concept ID:
C1850106
Disease or Syndrome
Raine syndrome (RNS) is a neonatal osteosclerotic bone dysplasia of early and aggressive onset that usually results in death within the first few weeks of life, although there have been some reports of survival into childhood. Radiographic studies show a generalized increase in the density of all bones and a marked increase in the ossification of the skull. The increased ossification of the basal structures of the skull and facial bones underlies the characteristic facial features, which include narrow prominent forehead, proptosis, depressed nasal bridge, and midface hypoplasia. Periosteal bone formation is also characteristic of this disorder and differentiates it from osteopetrosis and other known lethal and nonlethal osteosclerotic bone dysplasias. The periosteal bone formation typically extends along the diaphysis of long bones adjacent to areas of cellular soft tissue (summary by Simpson et al., 2009). Some patients survive infancy (Simpson et al., 2009; Fradin et al., 2011).
Craniofacial dyssynostosis
MedGen UID:
347473
Concept ID:
C1857511
Disease or Syndrome
A rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull, and hydrocephalus.
Osteogenesis imperfecta type 12
MedGen UID:
462783
Concept ID:
C3151433
Disease or Syndrome
Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type XII is an autosomal recessive form characterized by recurrent fractures, mild bone deformations, generalized osteoporosis, delayed teeth eruption, progressive hearing loss, no dentinogenesis imperfecta, and white sclerae (summary by Lapunzina et al., 2010).
Peroxisome biogenesis disorder 1A (Zellweger)
MedGen UID:
1648474
Concept ID:
C4721541
Disease or Syndrome
Zellweger spectrum disorder (ZSD) is a phenotypic continuum ranging from severe to mild. While individual phenotypes (e.g., Zellweger syndrome [ZS], neonatal adrenoleukodystrophy [NALD], and infantile Refsum disease [IRD]) were described in the past before the biochemical and molecular bases of this spectrum were fully determined, the term "ZSD" is now used to refer to all individuals with a defect in one of the ZSD-PEX genes regardless of phenotype. Individuals with ZSD usually come to clinical attention in the newborn period or later in childhood. Affected newborns are hypotonic and feed poorly. They have distinctive facies, congenital malformations (neuronal migration defects associated with neonatal-onset seizures, renal cysts, and bony stippling [chondrodysplasia punctata] of the patella[e] and the long bones), and liver disease that can be severe. Infants with severe ZSD are significantly impaired and typically die during the first year of life, usually having made no developmental progress. Individuals with intermediate/milder ZSD do not have congenital malformations, but rather progressive peroxisome dysfunction variably manifest as sensory loss (secondary to retinal dystrophy and sensorineural hearing loss), neurologic involvement (ataxia, polyneuropathy, and leukodystrophy), liver dysfunction, adrenal insufficiency, and renal oxalate stones. While hypotonia and developmental delays are typical, intellect can be normal. Some have osteopenia; almost all have ameleogenesis imperfecta in the secondary teeth.

Professional guidelines

PubMed

Bradley JP, Hollier LH Jr, Weiner HL, McCarthy JG
J Craniofac Surg 1999 May;10(3):226-9. doi: 10.1097/00001665-199905000-00010. PMID: 10530232

Recent clinical studies

Etiology

Donauer E, Bernardy M, Neuenfeldt D
Acta Neurochir (Wien) 1993;120(3-4):126-31. doi: 10.1007/BF02112030. PMID: 8460563

Diagnosis

Perrone E, Perez ABA, D'Almeida V, de Mello CB, Jacobina MAA, Loureiro RM, Burlin S, Migliavacca M, do Amaral Virmond L, Graziadio C, Pedroso JL, Mendes EL, Gomy I, de Macena Sobreira NL
Am J Med Genet A 2021 Apr;185(4):1047-1058. Epub 2020 Dec 31 doi: 10.1002/ajmg.a.62059. PMID: 33381921
Kobayashi Y, Kawashima H, Magara S, Akasaka N, Tohyama J
Brain Dev 2015 Mar;37(3):356-8. Epub 2014 May 21 doi: 10.1016/j.braindev.2014.05.002. PMID: 24856766
Wudy SA, Hartmann MF, Draper N, Stewart PM, Arlt W
Endocr Res 2004 Nov;30(4):957-64. doi: 10.1081/erc-200044174. PMID: 15666853
Quadrelli R, Vaglio A, Reyno S, Lemes A, Salazar D, Lachman RS, Wilcox WR
Am J Med Genet 2000 Nov 27;95(3):247-65. doi: 10.1002/1096-8628(20001127)95:3<247::aid-ajmg12>3.0.co;2-2. PMID: 11102932
Donauer E, Bernardy M, Neuenfeldt D
Acta Neurochir (Wien) 1993;120(3-4):126-31. doi: 10.1007/BF02112030. PMID: 8460563

Therapy

Perrone E, D'Almeida V, de Macena Sobreira NL, de Mello CB, de Oliveira AC, Burlin S, Soares MFF, Cernach MCSP, Alvarez Perez AB
Am J Med Genet A 2020 Jul;182(7):1761-1766. Epub 2020 Apr 17 doi: 10.1002/ajmg.a.61594. PMID: 32302043Free PMC Article

Prognosis

Graul-Neumann LM, Bach A, Albani M, Ringe H, Weimann A, Kress W, Hiort O, Bartsch O
Am J Med Genet A 2009 Jul;149A(7):1487-93. doi: 10.1002/ajmg.a.32889. PMID: 19530187
Donauer E, Bernardy M, Neuenfeldt D
Acta Neurochir (Wien) 1993;120(3-4):126-31. doi: 10.1007/BF02112030. PMID: 8460563

Clinical prediction guides

Kobayashi Y, Kawashima H, Magara S, Akasaka N, Tohyama J
Brain Dev 2015 Mar;37(3):356-8. Epub 2014 May 21 doi: 10.1016/j.braindev.2014.05.002. PMID: 24856766
Abdel-Salam GM, Abdel-Hadi S, Thomas MM, Eid OM, Ali MM, Afifi HH
Am J Med Genet A 2014 Feb;164A(2):480-3. Epub 2013 Dec 5 doi: 10.1002/ajmg.a.36276. PMID: 24311025
Graul-Neumann LM, Bach A, Albani M, Ringe H, Weimann A, Kress W, Hiort O, Bartsch O
Am J Med Genet A 2009 Jul;149A(7):1487-93. doi: 10.1002/ajmg.a.32889. PMID: 19530187
Schell-Apacik CC, Cohen M, Vojta S, Ertl-Wagner B, Klopocki E, Heinrich U, von Voss H
Eur J Pediatr 2008 Jan;167(1):123-6. Epub 2007 May 5 doi: 10.1007/s00431-007-0478-z. PMID: 17483961

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