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Participant 138


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Male, age 3 with global developmental delay, abnormal muscle tone and movement, and light pigmentation of the hair and skin (hypopigmentation)

Date of Report

Jul 22, 2019

Description

In infancy, the participant never cried and had limited motion. He began to show signs of global developmental delay shortly after birth. Currently he can sit up unassisted and can transition between sitting up and laying down. He can hold and drink from a sippy cup, babble, and use gestures and simple signs. He is also able to bear weight and take steps with maximal assistance.

The participant has low muscle tone in his trunk (axial hypotonia) and slightly increased muscle tone in his limbs (spasticity).  He also has weakness of neck muscles used to lift the head (isolated neck extensor weakness). He has frequent abnormal movements of his arms and head (hyperkinetic movements, dyskinetic movements, and stereotypies).

The participant has some different features including inverted nipples, abnormal distribution of fat (prominent suprapubic fat pad), and light pigmentation of hair and skin (hypopigmentation of hair, generalized hypopigmentation).

Symptoms / Signs
  • Global developmental delay
  • Absent speech
  • Inability to walk
  • Involuntary movements (dyskinesia)
  • Low muscle tone of the trunk (axial hypotonia)
  • EEG with generalized slow activity
  • Poor head control
  • Wide shaped head (brachycephaly)
  • Flat back of the head (flat occiput)
  • Prominent scalp veins
  • Protruding jaw (mandibular prognathia)
  • Abnormal lip shape (thick lower lip vermillion, everted lower lip vermillion)
  • Widely spaced teeth
  • Bony growth on top of mouth (torus palatinus)
  • Deeply set eyes
  • Difficulty moving eyes (oculomotor apraxia)
  • Outward wandering of eye (exotropia)
  • Abnormality of the ears (low-set ears, thickened helices, underdeveloped antitragus, underdeveloped tragus)
  • Slow-growing hair
  • Light pigmentation of hair and skin (hypopigmentation of hair, generalized hypopigmentation)
  • Prominent superficial blood vessels
  • Sunken chest (pectus excavatum)
  • Inverted nipples
  • Tapered finger
  • Short foot
  • Increased variability in muscle fiber diameter
  • Small hand
  • Retractile testis (right worse than left)
  • Drooling
  • Inguinal hernia
  • Abnormality fat distribution (prominent suprapubic fat pad)
  • Cow milk allergy
Current Treatments
  • EleCare formula
  • Occupational, physical, speech, feeding, and cognitive therapy
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Angelman syndrome
  • Congenital myasthenia syndrome
  • Griscelli syndrome
  • Metabolic disorder
  • Microdeletion/duplication syndrome
  • Prader Willi syndrome
  • Spinal muscular atrophy
Other Photographs
Genetic Variants of Interest

Clinicians and researchers are investigating the following de novo genetic change to see if it is causing the participant’s symptoms:

Gene
Inheritance Pattern
Position
Transcript
DNA Change
Protein Change
De novo
Chr17:40855823
NM_001991.3
c.2033C>G
p.A678G
Contact

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