Frank-Ter Haar syndrome

Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome; see this term) is defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.



Input patient's signs and symptoms


Narrow down the case reports



Total: 14 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(59.0%)		 26582053
 Frank-ter Haar syndrome--additional findings?
Kose TE, sler C, enel N, itilci T, Ozcan , Aksakall N.
Dentomaxillofac Radiol. 2016;45(2):20150119.
Full cheeks Micrognathia
Cone-Beam Computed Tomography Congenital Heart Defects Craniofacial Abnormalities Dentigerous Cyst Developmental Disabilities Homo sapiens Male Mandibular Condyle Maxillary Sinus Osteochondrodysplasias Panoramic Radiography Young Adult
2
(55.1%)		 19303467
 Frank-ter Haar syndrome with unusual clinical features.
Dundar M, Saatci C, Tasdemir S, Akcakus M, Caglayan AO, Ozkul Y.
Eur J Med Genet. 2009;52(4):247-9.
Brachycephaly Full cheeks Adducted thumb Bowing of the long bones
ZNF420
Congenital Hand Deformities Congenital Heart Defects Craniofacial Abnormalities Fatal Outcome Genes, Recessive Homo sapiens Infant Male Osteochondrodysplasias Syndrome
3
(51.7%)		 15523657
 Further delineation of Frank-ter Haar syndrome.
Maas SM, Kayserili H, Lam J, Apak MY, Hennekam RC.
Am J Med Genet A. 2004;131(2):127-33.
Brachycephaly Full cheeks Bowing of the long bones
rs794728006
Bone and Bones Cardiovascular Abnormalities Cornea Craniofacial Abnormalities Developmental Disabilities Females Homo sapiens Infant Infant, Newborn Male Syndrome
4
(48.3%)		 21453629
 Frank-Ter Haar Syndrome.
Saeed M, Shair QA, Saleem SM.
J Coll Physicians Surg Pak. 2011;21(4):252-3.
Brachycephaly Full cheeks Prominent coccyx
Angle Closure Glaucoma Congenital Heart Defects Craniofacial Abnormalities Developmental Disabilities Females Homo sapiens Infant Osteochondrodysplasias
5
(47.0%)		 7778598
 Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier report.
Hamel BC, Draaisma JM, Pinckers AJ, Boetes C, Hoppe RL, Ropers HH, Brunner HG.
Am J Med Genet. 1995;56(3):312-6.
Flat occiput Prominent coccyx
Differential Diagnosis Family Fatal Outcome Homo sapiens Infant, Newborn Male Osteochondrodysplasias Phenotype Terminology as Topic
6
(39.0%)		 23140272
(3532175)
 Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure.
Bendon CL, Fenwick AL, Hurst JA, Nurnberg G, Nurnberg P, Wall SA, Wilkie AO, Johnson D.
BMC Med Genet. 2012;13:104.
Brachycephaly
Adaptor Proteins, Signal Transducing Congenital Heart Defects Craniofacial Abnormalities Craniosynostosis Developmental Disabilities Females Homo sapiens Intracranial Pressure Male Mutation Osteochondrodysplasias
7
(23.3%)		 9188664
 Extended survival in a new case of ter Haar syndrome: further delineation of the syndrome.
Wallerstein R, Scott CI Jr, Nicholson L.
Am J Med Genet. 1997;70(3):267-72.
Hypertelorism Skeletal dysplasia Kyphoscoliosis
Bone and Bones Child Child, Preschool Congenital Heart Defects Developmental Disabilities Glaucoma Homo sapiens Male Survivors Syndrome
8
(22.8%)		 9610002
 A case of craniofacial dysmorphism, congenital heart defects, coccygeal skin folds, generalized skeletal alterations, and hemihypertrophy with linear skin hypopigmentation: a new syndrome?
Nishimura G, Nagai T.
J Hum Genet. 1998;43(1):65-8.
Hemihypertrophy
Bone and Bones Child, Preschool Congenital Heart Defects Craniofacial Abnormalities Females Homo sapiens Mosaicism Skin Abnormalities Syndrome
9
(21.2%)		 22037860
 Frank-Ter Haar syndrome in a newborn.
Femitha P, Joy R, Gane BD, Adhisivam B, Bhat BV.
Indian J Pediatr. 2012;79(8):1091-3.
Megalocornea Skeletal dysplasia
Congenital Heart Defects Craniofacial Abnormalities Developmental Disabilities Fatal Outcome Homo sapiens Infant, Newborn Male Osteochondrodysplasias
10
(4.0%)		 29100834
 Ophthalmic findings in Frank-ter Haar syndrome: report of a sibling pair.
Chang TC, Bauer M, Puerta HS, Greenberg MB, Cavuoto KM.
J AAPOS. 2017;21(6):514-516.
Megalocornea
SH3PXD2B
Adaptor Proteins, Signal Transducing Amblyopia Child, Preschool Choroid Congenital Heart Defects Craniofacial Abnormalities DNA Mutational Analysis Developmental Disabilities Eye Abnormalities Eye Diseases, Hereditary Females Genetic Diseases, X-Linked Homo sapiens Male Mutation Ocular Hypertension Optic Disk Osteochondrodysplasias Sibling
        

Phenotype(s) retrieved from Orphanet

    Total: 33

HPO ID Term Frequency
HP:0000154 Wide mouth Very frequent (99-80%)
HP:0000280 Coarse facial features Very frequent (99-80%)
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000322 Short philtrum Very frequent (99-80%)
HP:0000431 Wide nasal bridge Very frequent (99-80%)
HP:0000490 Deeply set eye Very frequent (99-80%)
HP:0001061 Acne Very frequent (99-80%)
HP:0001072 Thickened skin Very frequent (99-80%)
HP:0001156 Brachydactyly Very frequent (99-80%)
HP:0001634 Mitral valve prolapse Very frequent (99-80%)
HP:0002797 Osteolysis Very frequent (99-80%)
HP:0005280 Depressed nasal bridge Very frequent (99-80%)
HP:0010885 Avascular necrosis Very frequent (99-80%)
HP:0012471 Thick vermilion border Very frequent (99-80%)
HP:0000212 Gingival overgrowth Frequent (79-30%)
HP:0000303 Mandibular prognathia Frequent (79-30%)
HP:0000337 Broad forehead Frequent (79-30%)
HP:0000348 High forehead Frequent (79-30%)
HP:0000411 Protruding ear Frequent (79-30%)
HP:0000494 Downslanted palpebral fissures Frequent (79-30%)
HP:0000684 Delayed eruption of teeth Frequent (79-30%)
HP:0001163 Abnormality of the metacarpal bones Frequent (79-30%)
HP:0001387 Joint stiffness Frequent (79-30%)
HP:0002650 Scoliosis Frequent (79-30%)
HP:0002808 Kyphosis Frequent (79-30%)
HP:0002816 Genu recurvatum Frequent (79-30%)
HP:0004209 Clinodactyly of the 5th finger Frequent (79-30%)
HP:0004568 Beaking of vertebral bodies Frequent (79-30%)
HP:0006480 Premature loss of teeth Frequent (79-30%)
HP:0100490 Camptodactyly of finger Frequent (79-30%)
HP:0000023 Inguinal hernia Occasional (29-5%)
HP:0000771 Gynecomastia Occasional (29-5%)
HP:0001537 Umbilical hernia Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 5

HPO ID Term # of case reports
HP:0000316 Hypertelorism 2
HP:0000248 Brachycephaly 1
HP:0000485 Megalocornea 1
HP:0000501 Glaucoma 1
HP:0040016 Prominent coccyx 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
SH3PXD2B SH3 and PX domains 2B 285590