They had ventricular extrasystoles that presented itself with syncopal episodes associated with multifocal tachycardia, aplastic/hypoplastic distal phalanges of the toes (a phenomenon Stoll et al. described as perodactyly), Pierre Robin Sequence, a condition [en.wikipedia.org]

• Disability

  [9] Autosomal dominant intellectual disability-44 with microcephaly[edit] This is a condition with only around 25 cases described in medical history (including the previously mentioned family), it's characterized by mild intellectual disability and developmental [en.wikipedia.org]

  […] frontal hairline Low-set frontal hairline [ more ] 0000294 Submucous cleft hard palate 0000176 5%-29% of people have these symptoms Camptodactyly of finger Permanent flexion of the finger 0100490 Glossoptosis Retraction of the tongue 0000162 Intellectual disability [rarediseases.info.nih.gov]

• Short Stature

  "Familial multiple ventricular extrasystoles, short stature, craniofacial abnormalities and digital hypoplasia: a further case of Stoll syndrome?". Clinical Dysmorphology. 17 (2): 91–93. doi:10.1097/MCD.0b013e3282efefc9. ISSN 0962-8827. [en.wikipedia.org]

  […] distal phalanx of finger Short outermost finger bone 0009882 Short foot Short feet Small feet [ more ] 0001773 Short stature Decreased body height Small stature [ more ] 0004322 Short toe Short toes Stubby toes [ more ] 0001831 Tapered finger Tapered [rarediseases.info.nih.gov]

• Developmental Disorder

  PMID 27418539. ^ "Entry - #617061 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY; MRD44 - OMIM". www.omim.org. Retrieved 2022-09-24. [en.wikipedia.org]

• Developmental Delay

  delay, microcephaly, digital anomalies, and facial dysmorphisms. [en.wikipedia.org]

• Joint Dislocation

  dislocation Joint dislocations Recurrent joint dislocations [ more ] 0001373 Low anterior hairline Low frontal hairline Low-set frontal hairline [ more ] 0000294 Submucous cleft hard palate 0000176 5%-29% of people have these symptoms Camptodactyly of [rarediseases.info.nih.gov]

  dislocations, and short stature.[3] Around 6 to 12 cases have been described in medical literature.[4][5] This condition has also been called heart-hand syndrome type 5.[6] Cases[edit] This condition was first discovered in 1992 by Stoll et al, when [en.wikipedia.org]

• Thumb Hypoplasia

  hypoplasia, and various benign septal defects (of the heart) which were deemed to be harmless. [en.wikipedia.org]

• Small Head

  […] skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ] 0000252 Short 4th metacarpal Shortened 4th long bone of hand 0010044 Percent of people who have these symptoms is not available [rarediseases.info.nih.gov]

• Antimongoloid Slant

  […] palpebral fissures (which Stoll et al. described as antimongoloid slanted). [en.wikipedia.org]

  Clinical description An additional feature may be an antimongoloid slant of the palpebral fissures. Etiology Etiology remains unknown. Last updated: 9/1/2009 Symptoms Symptoms This table lists symptoms that people with this disease may have. [rarediseases.info.nih.gov]

• Average Intelligence

  While the mother didn't have any learning difficulties and had average intelligence, she did report having had difficulties with school during her academic years.[8] A follow-up on the family was reported by Pengelly et al in the year 2016: one of the [en.wikipedia.org]

• Headache

  Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow. [ncbi.nlm.nih.gov]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

Etiology Etiology remains unknown. Last updated: 9/1/2009 Symptoms Symptoms This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. [rarediseases.info.nih.gov]

Epidemiology It has initially been reported in six patients from three generations of one family. Four affected members of another family manifesting a similar constellation of clinical features have recently been reported. [rarediseases.info.nih.gov]

Other names Ventricular extrasystoles with syncope, perodactyly, and Robin sequence, Stoll-Kieny-Dott syndrome, Ventricular extrasystoles perodactyly Robin sequence[1] Specialty Medical genetics Usual onset Birth and Childhood Causes Genetic mutation Prevention [en.wikipedia.org]