Alopecia-epilepsy-pyorrhea-intellectual disability syndrome

A rare genetic syndromic intellectual disability that is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant.



Input patient's signs and symptoms


Narrow down the case reports



Total: 29 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(58.1%)		 17297855
 [Pena-Shokeir phenotype (fetal akinesia/hypokinesia sequence)].
Dzinovic A, Heljic S.
Med Arh. 2006;60(6):383-5.
Micrognathia Ulnar deviation of the hand
Females Homo sapiens Infant, Newborn Phenotype Syndrome
2
(57.8%)		 22349748
 Anesthetic management of three pediatric cases with Pena-Shokeir syndrome.
Tsujikawa S, Okutani R, Tsujii K, Oda Y.
J Anesth. 2012;26(3):445-8.
Microcephaly Micrognathia
Craniofacial Abnormalities Homo sapiens Infant, Newborn Male Syndrome
2
(57.8%)		 20938779
 Antenatal ultrasound and MRI findings of Pena-Shokeir syndrome.
Gupta P, Sharma JB, Sharma R, Gadodia A, Kumar S, Roy KK.
Arch Gynecol Obstet. 2011;283 Suppl 1:27-9.
Micrognathia
Adult Edema Females Homo sapiens Joints Magnetic Resonance Imaging Male Micrognathism Pregnancy Stillbirth Syndrome Ultrasonography, Prenatal
2
(57.8%)		 20519182
 [Pena-Shokeir syndrome type I--combination of polyhydramnios and pulmonary hypoplasia in fetal akinesia].
Deli T, Kovacs T.
Orv Hetil. 2010;151(24):990-3.
Micrognathia
Differential Diagnosis Fatal Outcome Females Fetal Diseases Fetal Movement Genetic Counseling Homo sapiens Infant, Newborn Lung Male Phenotype Polyhydramnios Pregnancy Respiratory Insufficiency Syndrome Ultrasonography, Prenatal
5
(39.0%)		 3903051
 [Morphological study of the removed fetus after therapeutic abortion for echographic anomalies (apropos of 42 cases)].
Serville F, Carles D, Mainguene M, Maugey B, Vanga A.
J Genet Hum. 1985;33(3-4):301-12.
Encephalocele
Adult Amniotic Band Syndrome Anencephaly Arthrogryposis Chromosome Aberrations Congenital Abnormality Females Fetus Homo sapiens Male Middle Aged Osteogenesis Imperfecta Pregnancy Ultrasonography
6
(36.3%)		 28174814
 Morphological and ultrasonographic study of fetuses with cervical hygroma. A cases series.
Munteanu O, Cirstoiu MM, Filipoiu FM, Bohilea RE, Bulescu IA, Berceanu C.
Rom J Morphol Embryol. 2016;57(4):1421-1427.
Cystic hygroma Pterygium
Adult Females Homo sapiens Lymphangioma, Cystic Pregnancy Young Adult
7
(23.3%)		 3278614
 Prenatal sonographic diagnosis of Pena-Shokeir syndrome type I, or fetal akinesia deformation sequence.
Ohlsson A, Fong KW, Rose TH, Moore DC.
Am J Med Genet. 1988;29(1):59-65.
Cryptorchidism Kyphosis
Contracture Females Fetal Movement Homo sapiens Infant, Newborn Lung Male Muscle Tissue Pregnancy Syndrome Thymus Hyperplasia Ultrasonography
8
(21.2%)		 16231771
 [Bronchospasm during anesthesia in a patient with Pena-Shokeir syndrome].
Nakamura A, Kawahito S, Katayama T, Kawano T, Nitta K, Inui D, Kitahata H, Oshita S.
Masui. 2005;54(10):1146-8.
Malignant hyperthermia Camptodactyly
Ankylosis Bronchospasm Craniofacial Abnormalities General Anesthesia Homo sapiens Infant Lung Male
8
(21.2%)		 15628635
 Acute respiratory distress in Pena-Shokeir syndrome.
Boesen PV, French CE.
Ear Nose Throat J. 2004;83(11):772-3.
Pulmonary hypoplasia Camptodactyly
Ankylosis Child Craniofacial Abnormalities Females Homo sapiens Lung Respiratory Distress Syndrome Syndrome
8
(21.2%)		 6650566
 The Pena-Shokeir syndrome: report of five cases and further delineation of the syndrome.
Chen H, Blumberg B, Immken L, Lachman R, Rightmire D, Fowler M, Bachman R, Beemer FA.
Am J Med Genet. 1983;16(2):213-24.
Pterygium
Ankylosis Face Females Fingers Homo sapiens Infant, Newborn Lung Male Syndrome Ultrasonography
        

Phenotype(s) retrieved from Orphanet

    Total: 14

HPO ID Term Frequency
HP:0000164 Abnormality of the dentition Very frequent (99-80%)
HP:0000230 Gingivitis Very frequent (99-80%)
HP:0000499 Abnormal eyelash morphology Very frequent (99-80%)
HP:0000704 Periodontitis Very frequent (99-80%)
HP:0001256 Intellectual disability, mild Very frequent (99-80%)
HP:0002209 Sparse scalp hair Very frequent (99-80%)
HP:0002231 Sparse body hair Very frequent (99-80%)
HP:0002289 Alopecia universalis Very frequent (99-80%)
HP:0002353 EEG abnormality Very frequent (99-80%)
HP:0002354 Memory impairment Very frequent (99-80%)
HP:0001250 Seizures Frequent (79-30%)
HP:0000238 Hydrocephalus Occasional (29-5%)
HP:0000365 Hearing impairment Occasional (29-5%)
HP:0000995 Melanocytic nevus Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 20

HPO ID Term # of case reports
HP:0002089 Pulmonary hypoplasia 10
HP:0001561 Polyhydramnios 6
HP:0002304 Akinesia 6
HP:0012385 Camptodactyly 4
HP:0001511 Intrauterine growth retardation 3
HP:0002375 Hypokinesia 3
HP:0001059 Pterygium 2
HP:0031013 Ankylosis 2
HP:0000347 Micrognathia 1
HP:0000488 Retinopathy 1
HP:0000602 Ophthalmoplegia 1
HP:0001196 Short umbilical cord 1
HP:0001298 Encephalopathy 1
HP:0002084 Encephalocele 1
HP:0002323 Anencephaly 1
HP:0002414 Spina bifida 1
HP:0002435 Meningocele 1
HP:0003764 Nevus 1
HP:0010866 Abdominal wall defect 1
HP:0025428 Bronchospasm 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID