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Pili torti-developmental delay-neurological abnormalities syndrome(HJDD)

MedGen UID:
342358
Concept ID:
C1849811
Disease or Syndrome
Synonyms: Pili torti and developmental delay; Pili torti developmental delay neurological abnormalities
 
Gene (location): HEPHL1 (11q21)
 
Monarch Initiative: MONDO:0009871
OMIM®: 261990
Orphanet: ORPHA2891

Definition

Abnormal hair, joint laxity, and developmental delay (HJDD) is characterized by normal hair at birth that gradually becomes sparse, twisted, brittle, and easily broken, with pili torti and trichorrhexis nodosa observed on light microscopy. Other features include increased joint mobility and cognitive delay (summary by Sharma et al., 2019). [from OMIM]

Clinical features

From HPO
Fatigue
MedGen UID:
41971
Concept ID:
C0015672
Sign or Symptom
A subjective feeling of tiredness characterized by a lack of energy and motivation.
Lower limb pain
MedGen UID:
6033
Concept ID:
C0023222
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg.
Short fourth metatarsal
MedGen UID:
336358
Concept ID:
C1848514
Finding
Short fourth metatarsal bone.
Increased carrying angle
MedGen UID:
343361
Concept ID:
C1855478
Finding
An abnormal increase in the carrying angle, which is the angle he long axis of the extended forearm as it lies lateral to the long axis of the arm.
Clinodactyly of the 4th toe
MedGen UID:
866488
Concept ID:
C4020740
Finding
Bending or curvature of a fourth toe in the tibial direction (i.e., towards the big toe).
Short fifth metatarsal
MedGen UID:
867287
Concept ID:
C4021649
Anatomical Abnormality
Short (hypoplastic) fifth metatarsal bone.
Clinodactyly of the 5th toe
MedGen UID:
871256
Concept ID:
C4025741
Anatomical Abnormality
Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe).
2-3 toe syndactyly
MedGen UID:
1645640
Concept ID:
C4551570
Congenital Abnormality
Syndactyly with fusion of toes two and three.
Mitral regurgitation
MedGen UID:
7670
Concept ID:
C0026266
Disease or Syndrome
An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.
Tricuspid regurgitation
MedGen UID:
11911
Concept ID:
C0040961
Disease or Syndrome
Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium.
Sinus bradycardia
MedGen UID:
39316
Concept ID:
C0085610
Pathologic Function
Bradycardia related to a mean resting sinus rate of less than 50 beats per minute.
Aggressive behavior
MedGen UID:
1375
Concept ID:
C0001807
Individual Behavior
Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).
Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Impulsivity
MedGen UID:
43850
Concept ID:
C0021125
Mental or Behavioral Dysfunction
Acting on the spur of the moment or on a momentary basis without consideration of outcomes; having difficulty establishing or following plans; experiencing a sense of urgency and engaging in behavior that is uninhibited, cannot be inhibited, and is uncontrolled. The possibility of repression is inconceivable.
Snoring
MedGen UID:
20006
Concept ID:
C0037384
Sign or Symptom
Deep, noisy breathing during sleep, accompanied by hoarse or harsh sounds, is caused by the vibration of respiratory structures, especially the soft palate. This vibration results in sound due to obstructed air movement during breathing while sleeping.
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.
Developmental regression
MedGen UID:
324613
Concept ID:
C1836830
Disease or Syndrome
Loss of developmental skills, as manifested by loss of developmental milestones.
Poor speech
MedGen UID:
341172
Concept ID:
C1848207
Finding
Plagiocephaly
MedGen UID:
78562
Concept ID:
C0265529
Congenital Abnormality
Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape.
Joint hypermobility
MedGen UID:
336793
Concept ID:
C1844820
Finding
The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.
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.
Recurrent fever
MedGen UID:
811468
Concept ID:
C3714772
Sign or Symptom
Periodic (episodic or recurrent) bouts of fever.
Microdontia
MedGen UID:
66008
Concept ID:
C0240340
Congenital Abnormality
Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.
Elfin facies
MedGen UID:
87157
Concept ID:
C0332606
Sign or Symptom
This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely. This term is retained because it was often used in the past, but it should not be used for new annotations.
Sparse lateral eyebrow
MedGen UID:
387768
Concept ID:
C1857206
Finding
Decreased density/number and/or decreased diameter of lateral eyebrow hairs.
Alopecia
MedGen UID:
7982
Concept ID:
C0002170
Finding
A noncongenital process of hair loss, which may progress to partial or complete baldness.
Keratosis pilaris
MedGen UID:
82664
Concept ID:
C0263383
Disease or Syndrome
An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs.
Trichorrhexis nodosa
MedGen UID:
82668
Concept ID:
C0263485
Disease or Syndrome
Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair.
Pili torti
MedGen UID:
82670
Concept ID:
C0263491
Finding
Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope.
Small nail
MedGen UID:
537942
Concept ID:
C0263523
Finding
A nail that is diminished in length and width, i.e., underdeveloped nail.
Fragile nails
MedGen UID:
341661
Concept ID:
C1856963
Finding
Nails that easily break.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPili torti-developmental delay-neurological abnormalities syndrome
Follow this link to review classifications for Pili torti-developmental delay-neurological abnormalities syndrome in Orphanet.

Recent clinical studies

Diagnosis

Gironi LC, Peruzzi C, Chierici V, Marolda A, Papa A, Zottarelli F, Savoia P, Bona G, Colombo E
J Dtsch Dermatol Ges 2018 Mar;16(3):360-363. Epub 2017 Dec 30 doi: 10.1111/ddg.13407. PMID: 29288599

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