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Pelger-Huët anomaly(PHA)

MedGen UID:
10617
Concept ID:
C0030779
Disease or Syndrome
Synonyms: Ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities; Pelger-Huet Anomaly; Pelger-Huet nuclear anomaly; PHA
SNOMED CT: Pelger Huet anomaly (85559002); Pelger-Huët anomaly (85559002); Pelger-Huet anomaly (85559002)
 
Gene (location): LBR (1q42.12)
 
Monarch Initiative: MONDO:0008214
OMIM®: 169400

Definition

An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped neutrophils with bilobed nuclei in the peripheral blood smear. [from NCI]

Clinical features

From HPO
Polydactyly
MedGen UID:
57774
Concept ID:
C0152427
Congenital Abnormality
A congenital anomaly characterized by the presence of supernumerary fingers or toes.
Pes cavus
MedGen UID:
675590
Concept ID:
C0728829
Congenital Abnormality
An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).
Upper limb undergrowth
MedGen UID:
324789
Concept ID:
C1837406
Finding
Arm shortening because of underdevelopment of one or more bones of the upper extremity.
Short 4th metacarpal
MedGen UID:
327074
Concept ID:
C1840309
Finding
Short fourth metacarpal bone.
Lower limb hypertonia
MedGen UID:
375612
Concept ID:
C1845245
Finding
Short 3rd metacarpal
MedGen UID:
338089
Concept ID:
C1850631
Finding
Short third metacarpal bone.
Short 5th metacarpal
MedGen UID:
348858
Concept ID:
C1861388
Finding
Short fifth metacarpal bone.
Foot dorsiflexor weakness
MedGen UID:
356163
Concept ID:
C1866141
Finding
Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.
Ventricular septal defect
MedGen UID:
42366
Concept ID:
C0018818
Congenital Abnormality
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Mild short stature
MedGen UID:
461427
Concept ID:
C3150077
Finding
A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Bilateral tonic-clonic seizure
MedGen UID:
141670
Concept ID:
C0494475
Sign or Symptom
A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Lower limb hyperreflexia
MedGen UID:
322973
Concept ID:
C1836696
Finding
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Thrombocytopenia
MedGen UID:
52737
Concept ID:
C0040034
Disease or Syndrome
A reduction in the number of circulating thrombocytes.
Giant platelets
MedGen UID:
137700
Concept ID:
C0333864
Finding
Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998).
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Anatomical Abnormality
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
Kyphosis
MedGen UID:
44042
Concept ID:
C0022821
Anatomical Abnormality
Exaggerated anterior convexity of the thoracic vertebral column.
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
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.
Abnormality of neutrophils
MedGen UID:
488900
Concept ID:
C0427515
Finding
A neutrophil abnormality.
Recurrent otitis media
MedGen UID:
155436
Concept ID:
C0747085
Disease or Syndrome
Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
Neutropenia
MedGen UID:
163121
Concept ID:
C0853697
Finding
An abnormally low number of neutrophils in the peripheral blood.
Hyposegmentation of neutrophil nuclei
MedGen UID:
892291
Concept ID:
C4023351
Cell or Molecular Dysfunction
Hyposegmented (hypolobulated) or bilobed neutrophil nuclei.
Abnormality of the dentition
MedGen UID:
78084
Concept ID:
C0262444
Finding
Any abnormality of the teeth.
Gingival overgrowth
MedGen UID:
87712
Concept ID:
C0376480
Finding
Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.
Depressed nasal bridge
MedGen UID:
373112
Concept ID:
C1836542
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Prominent forehead
MedGen UID:
373291
Concept ID:
C1837260
Finding
Forward prominence of the entire forehead, due to protrusion of the frontal bone.
Median cleft palate
MedGen UID:
340670
Concept ID:
C1850968
Congenital Abnormality
Cleft palate of the midline of the palate.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
Abnormality of chromosome segregation
MedGen UID:
871193
Concept ID:
C4025670
Finding
An abnormality of chromosome segregation.

Professional guidelines

PubMed

Staufner C, Peters B, Wagner M, Alameer S, Barić I, Broué P, Bulut D, Church JA, Crushell E, Dalgıç B, Das AM, Dick A, Dikow N, Dionisi-Vici C, Distelmaier F, Bozbulut NE, Feillet F, Gonzales E, Hadzic N, Hauck F, Hegarty R, Hempel M, Herget T, Klein C, Konstantopoulou V, Kopajtich R, Kuster A, Laass MW, Lainka E, Larson-Nath C, Leibner A, Lurz E, Mayr JA, McKiernan P, Mention K, Moog U, Mungan NO, Riedhammer KM, Santer R, Palafoll IV, Vockley J, Westphal DS, Wiedemann A, Wortmann SB, Diwan GD, Russell RB, Prokisch H, Garbade SF, Kölker S, Hoffmann GF, Lenz D
Genet Med 2020 Mar;22(3):610-621. Epub 2019 Nov 25 doi: 10.1038/s41436-019-0698-4. PMID: 31761904

Recent clinical studies

Etiology

Zini G, d'Onofrio G
Br J Haematol 2023 Feb;200(4):404-419. Epub 2022 Oct 6 doi: 10.1111/bjh.18489. PMID: 36203344Free PMC Article
Nazarullah A, Liang C, Villarreal A, Higgins RA, Mais DD
Am J Clin Pathol 2020 Aug 5;154(3):319-329. doi: 10.1093/ajcp/aqaa108. PMID: 32756872Free PMC Article
Goans RE, Toohey RE, Iddins CJ, McComish SL, Tolmachev SY, Dainiak N
Health Phys 2019 Aug;117(2):143-148. doi: 10.1097/HP.0000000000000831. PMID: 29595755
Goans RE, Iddins CJ, Ossetrova NI, Ney PH, Dainiak N
Health Phys 2017 Mar;112(3):252-257. doi: 10.1097/HP.0000000000000618. PMID: 28121725
Sjakste N, Sjakste T
Genetika 2005 Mar;41(3):293-8. PMID: 15865282

Diagnosis

Reilly A, Philip Creamer J, Stewart S, Stolla MC, Wang Y, Du J, Wellington R, Busch S, Estey EH, Becker PS, Fang M, Keel SB, Abkowitz JL, Soma LA, Ma J, Duan Z, Doulatov S
Cell Stem Cell 2022 Apr 7;29(4):577-592.e8. Epub 2022 Mar 11 doi: 10.1016/j.stem.2022.02.010. PMID: 35278369Free PMC Article
Goans RE, Toohey RE, Iddins CJ, McComish SL, Tolmachev SY, Dainiak N
Health Phys 2019 Aug;117(2):143-148. doi: 10.1097/HP.0000000000000831. PMID: 29595755
Colella R, Hollensead SC
Am J Clin Pathol 2012 Mar;137(3):358-66. doi: 10.1309/AJCP3G8MDUXYSCID. PMID: 22338047
Dusse LM, Moreira AM, Vieira LM, Rios DR, Silva RM, Carvalho Md
Clin Chim Acta 2010 Nov 11;411(21-22):1587-90. Epub 2010 Aug 5 doi: 10.1016/j.cca.2010.07.011. PMID: 20691170
Speeckaert MM, Verhelst C, Koch A, Speeckaert R, Lacquet F
Acta Haematol 2009;121(4):202-6. Epub 2009 May 26 doi: 10.1159/000220333. PMID: 19468205

Therapy

Hayes JM, Olson JD, Chino Y, Bourland JD, Cline JM, Johnson TE
Int J Radiat Biol 2022;98(5):913-923. Epub 2021 Nov 11 doi: 10.1080/09553002.2021.1998708. PMID: 34699313Free PMC Article
Goans RE, Toohey RE, Iddins CJ, McComish SL, Tolmachev SY, Dainiak N
Health Phys 2019 Aug;117(2):143-148. doi: 10.1097/HP.0000000000000831. PMID: 29595755
Goans RE, Iddins CJ, Ossetrova NI, Ney PH, Dainiak N
Health Phys 2017 Mar;112(3):252-257. doi: 10.1097/HP.0000000000000618. PMID: 28121725
Dusse LM, Morais E Silva RM, Freitas VM, Medeiros de Paula GM, Vieira LM, Carvalho Md
Acta Haematol 2006;116(4):272-4. doi: 10.1159/000095879. PMID: 17119329
Taylor RL
Am J Clin Pathol 1973 Dec;60(6):932-5. doi: 10.1093/ajcp/60.6.932. PMID: 4758290

Prognosis

Thomas Q, Motta M, Gautier T, Zaki MS, Ciolfi A, Paccaud J, Girodon F, Boespflug-Tanguy O, Besnard T, Kerkhof J, McConkey H, Masson A, Denommé-Pichon AS, Cogné B, Trochu E, Vignard V, El It F, Rodan LH, Alkhateeb MA, Jamra RA, Duplomb L, Tisserant E, Duffourd Y, Bruel AL, Jackson A, Banka S, McEntagart M, Saggar A, Gleeson JG, Sievert D, Bae H, Lee BH, Kwon K, Seo GH, Lee H, Saeed A, Anjum N, Cheema H, Alawbathani S, Khan I, Pinto-Basto J, Teoh J, Wong J, Sahari UBM, Houlden H, Zhelcheska K, Pannetier M, Awad MA, Lesieur-Sebellin M, Barcia G, Amiel J, Delanne J, Philippe C, Faivre L, Odent S, Bertoli-Avella A, Thauvin C, Sadikovic B, Reversade B, Maroofian R, Govin J, Tartaglia M, Vitobello A
Am J Hum Genet 2022 Oct 6;109(10):1909-1922. Epub 2022 Aug 30 doi: 10.1016/j.ajhg.2022.08.008. PMID: 36044892Free PMC Article
Staufner C, Peters B, Wagner M, Alameer S, Barić I, Broué P, Bulut D, Church JA, Crushell E, Dalgıç B, Das AM, Dick A, Dikow N, Dionisi-Vici C, Distelmaier F, Bozbulut NE, Feillet F, Gonzales E, Hadzic N, Hauck F, Hegarty R, Hempel M, Herget T, Klein C, Konstantopoulou V, Kopajtich R, Kuster A, Laass MW, Lainka E, Larson-Nath C, Leibner A, Lurz E, Mayr JA, McKiernan P, Mention K, Moog U, Mungan NO, Riedhammer KM, Santer R, Palafoll IV, Vockley J, Westphal DS, Wiedemann A, Wortmann SB, Diwan GD, Russell RB, Prokisch H, Garbade SF, Kölker S, Hoffmann GF, Lenz D
Genet Med 2020 Mar;22(3):610-621. Epub 2019 Nov 25 doi: 10.1038/s41436-019-0698-4. PMID: 31761904
Koike Y, Yanagisawa R, Ogiso Y, Cho Y, Minami K, Takeuchi K, Sakashita K, Higuchi T
J Pediatr 2016 Jun;173:238-241.e1. Epub 2016 Mar 30 doi: 10.1016/j.jpeds.2016.02.065. PMID: 27039225
Dusse LM, Morais E Silva RM, Freitas VM, Medeiros de Paula GM, Vieira LM, Carvalho Md
Acta Haematol 2006;116(4):272-4. doi: 10.1159/000095879. PMID: 17119329
Best S, Salvati F, Kallo J, Garner C, Height S, Thein SL, Rees DC
Br J Haematol 2003 Nov;123(3):542-4. doi: 10.1046/j.1365-2141.2003.04621.x. PMID: 14617022

Clinical prediction guides

Thomas Q, Motta M, Gautier T, Zaki MS, Ciolfi A, Paccaud J, Girodon F, Boespflug-Tanguy O, Besnard T, Kerkhof J, McConkey H, Masson A, Denommé-Pichon AS, Cogné B, Trochu E, Vignard V, El It F, Rodan LH, Alkhateeb MA, Jamra RA, Duplomb L, Tisserant E, Duffourd Y, Bruel AL, Jackson A, Banka S, McEntagart M, Saggar A, Gleeson JG, Sievert D, Bae H, Lee BH, Kwon K, Seo GH, Lee H, Saeed A, Anjum N, Cheema H, Alawbathani S, Khan I, Pinto-Basto J, Teoh J, Wong J, Sahari UBM, Houlden H, Zhelcheska K, Pannetier M, Awad MA, Lesieur-Sebellin M, Barcia G, Amiel J, Delanne J, Philippe C, Faivre L, Odent S, Bertoli-Avella A, Thauvin C, Sadikovic B, Reversade B, Maroofian R, Govin J, Tartaglia M, Vitobello A
Am J Hum Genet 2022 Oct 6;109(10):1909-1922. Epub 2022 Aug 30 doi: 10.1016/j.ajhg.2022.08.008. PMID: 36044892Free PMC Article
Oskarsson GR, Magnusson MK, Oddsson A, Jensson BO, Fridriksdottir R, Arnadottir GA, Katrinardottir H, Rognvaldsson S, Halldorsson GH, Sveinbjornsson G, Ivarsdottir EV, Stefansdottir L, Ferkingstad E, Norland K, Tragante V, Saemundsdottir J, Jonasdottir A, Jonasdottir A, Sigurjonsdottir S, Petursdottir KO, Davidsson OB, Rafnar T, Holm H, Olafsson I, Onundarson PT, Vidarsson B, Sigurdardottir O, Masson G, Gudbjartsson DF, Jonsdottir I, Norddahl GL, Thorsteinsdottir U, Sulem P, Stefansson K
Commun Biol 2022 Jun 1;5(1):525. doi: 10.1038/s42003-022-03462-1. PMID: 35650273Free PMC Article
Cotrina-Vinagre FJ, Rodríguez-García ME, Martín-Hernández E, Durán-Aparicio C, Merino-López A, Medina-Benítez E, Martínez-Azorín F
Mol Genet Metab 2021 Jun;133(2):201-210. Epub 2021 Feb 27 doi: 10.1016/j.ymgme.2021.02.007. PMID: 33707149
Staufner C, Peters B, Wagner M, Alameer S, Barić I, Broué P, Bulut D, Church JA, Crushell E, Dalgıç B, Das AM, Dick A, Dikow N, Dionisi-Vici C, Distelmaier F, Bozbulut NE, Feillet F, Gonzales E, Hadzic N, Hauck F, Hegarty R, Hempel M, Herget T, Klein C, Konstantopoulou V, Kopajtich R, Kuster A, Laass MW, Lainka E, Larson-Nath C, Leibner A, Lurz E, Mayr JA, McKiernan P, Mention K, Moog U, Mungan NO, Riedhammer KM, Santer R, Palafoll IV, Vockley J, Westphal DS, Wiedemann A, Wortmann SB, Diwan GD, Russell RB, Prokisch H, Garbade SF, Kölker S, Hoffmann GF, Lenz D
Genet Med 2020 Mar;22(3):610-621. Epub 2019 Nov 25 doi: 10.1038/s41436-019-0698-4. PMID: 31761904
Speeckaert MM, Verhelst C, Koch A, Speeckaert R, Lacquet F
Acta Haematol 2009;121(4):202-6. Epub 2009 May 26 doi: 10.1159/000220333. PMID: 19468205

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