Acrocraniofacial dysostosis

A very rare acrofacialdyosotosis characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988.



Input patient's signs and symptoms


Narrow down the case reports



Total: 3 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(57.8%)		 11424146
 Trigonomicrocephaly, severe micrognathia, large ears, atrioventricular septal defect, symmetrical cutaneous syndactyly of hands and feet, and multiple cafe-au-lait spots: new acrocraniofacial dysostosis syndrome?
Al-Sannaa N, Forrest CR, Teebi AS.
Am J Med Genet. 2001;101(3):279-82.
Micrognathia
Acrocephalosyndactylia Cafe-au-Lait Spots Craniofacial Dysostosis Heart Septal Defects Homo sapiens Infant Limb Deformities, Congenital Male Microcephaly Micrognathism Syndactyly Syndrome
2
(40.2%)		 12567409
 Clinical and genetic aspects of trigonocephaly: a study of 25 cases.
Azimi C, Kennedy SJ, Chitayat D, Chakraborty P, Clarke JT, Forrest C, Teebi AS.
Am J Med Genet A. 2003;117A(2):127-35.
Trigonocephaly Metopic synostosis
Child, Preschool Chromosome Aberrations Craniofacial Abnormalities Craniosynostosis Fatal Outcome Females Homo sapiens Infant Infant, Newborn Male Syndrome
3
(39.0%)		 11858399
 Isolated craniosynostosis: prenatal ultrasound of scaphocephaly with polyhydramnios.
Huang HW, Lin H, Chang SY, Hsu YH, Hsu TY.
Chang Gung Med J. 2001;24(12):816-9.
Trigonocephaly
Adult Brain Craniosynostosis Females Homo sapiens Polyhydramnios Pregnancy Ultrasonography, Prenatal
        

Phenotype(s) retrieved from Orphanet

    Total: 44

HPO ID Term Frequency
HP:0000175 Cleft palate Very frequent (99-80%)
HP:0000262 Turricephaly Very frequent (99-80%)
HP:0000322 Short philtrum Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000368 Low-set, posteriorly rotated ears Very frequent (99-80%)
HP:0000377 Abnormality of the pinna Very frequent (99-80%)
HP:0000426 Prominent nasal bridge Very frequent (99-80%)
HP:0000463 Anteverted nares Very frequent (99-80%)
HP:0000494 Downslanted palpebral fissures Very frequent (99-80%)
HP:0000506 Telecanthus Very frequent (99-80%)
HP:0000508 Ptosis Very frequent (99-80%)
HP:0000520 Proptosis Very frequent (99-80%)
HP:0001182 Tapered finger Very frequent (99-80%)
HP:0001199 Triphalangeal thumb Very frequent (99-80%)
HP:0001231 Abnormal fingernail morphology Very frequent (99-80%)
HP:0002869 Flared iliac wings Very frequent (99-80%)
HP:0003312 Abnormal form of the vertebral bodies Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0004467 Preauricular pit Very frequent (99-80%)
HP:0008388 Abnormal toenail morphology Very frequent (99-80%)
HP:0009882 Short distal phalanx of finger Very frequent (99-80%)
HP:0010034 Short 1st metacarpal Very frequent (99-80%)
HP:0010097 Partial duplication of the distal phalanx of the hallux Very frequent (99-80%)
HP:0011304 Broad thumb Very frequent (99-80%)
HP:0000252 Microcephaly Frequent (79-30%)
HP:0000316 Hypertelorism Frequent (79-30%)
HP:0000340 Sloping forehead Frequent (79-30%)
HP:0000405 Conductive hearing impairment Frequent (79-30%)
HP:0000407 Sensorineural hearing impairment Frequent (79-30%)
HP:0000453 Choanal atresia Frequent (79-30%)
HP:0000545 Myopia Frequent (79-30%)
HP:0000632 Lacrimation abnormality Frequent (79-30%)
HP:0000767 Pectus excavatum Frequent (79-30%)
HP:0001363 Craniosynostosis Frequent (79-30%)
HP:0002564 obsolete Malformation of the heart and great vessels Frequent (79-30%)
HP:0002673 Coxa valga Frequent (79-30%)
HP:0002857 Genu valgum Frequent (79-30%)
HP:0003272 Abnormality of the hip bone Frequent (79-30%)
HP:0003298 Spina bifida occulta Frequent (79-30%)
HP:0004452 Abnormality of the middle ear ossicles Frequent (79-30%)
HP:0006288 Advanced eruption of teeth Frequent (79-30%)
HP:0009465 Ulnar deviation of finger Frequent (79-30%)
HP:0011453 Abnormality of the incus Frequent (79-30%)
HP:0011454 Abnormality of the malleus Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 2

HPO ID Term # of case reports
HP:0000347 Micrognathia 1
HP:0012725 Cutaneous syndactyly 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID