[…] pseudohypoaldosteronism · Estrogen insensitivity syndrome · X-linked adrenal hypoplasia congenita · MODY 1 · Familial partial lipodystrophy 3 · SF1 XY gonadal dysgenesis 2.2: Barakat syndrome · Tricho–rhino–phalangeal syndrome 2.3: Greig cephalopolysyndactyly syndrome / Pallister-Hall [wiki30.com]

[…] pseudohypoaldosteronism • Estrogen insensitivity syndrome • X-linked adrenal hypoplasia congenita • MODY 1 • Familial partial lipodystrophy 3 • SF1 XY gonadal dysgenesis 2.2: Barakat syndrome • Tricho–rhino–phalangeal syndrome 2.3: Greig cephalopolysyndactyly syndrome / Pallister-Hall [marefa.org]

· PAX3 ( Waardenburg syndrome 1&3 ) · PAX4 ( MODY 9 ) · PAX6 ( Gillespie syndrome, Coloboma of optic nerve ) · PAX8 ( Congenital hypothyroidism 2 ) · PAX9 ( STHAG3 ) 3.3: FOXC1 ( Axenfeld syndrome 3, Iridogoniodysgenesis, dominant type ) · FOXC2 ( Lymphedema–distichiasis [wiki30.com]

• PAX3 ( Waardenburg syndrome 1&3 ) • PAX4 ( MODY 9 ) • PAX6 ( Gillespie syndrome, Coloboma of optic nerve ) • PAX8 ( Congenital hypothyroidism 2 ) • PAX9 ( STHAG3 ) 3.3: FOXC1 ( Axenfeld syndrome 3, Iridogoniodysgenesis, dominant type ) • FOXC2 ( Lymphedema–distichiasis [marefa.org]

Hone and expand your surgical skills by watching videos of minimally invasive procedures for recto urethral fistula, biliary atresia, laparoscopic splenectomy, uterine horn, and more. [books.google.com]

SOX10).It was characterized in 1990, after being seen in two siblings from Yemen who presented with a "hitherto undescribed association of microcornea, colobomata of the iris and choroidea, nystagmus, severe early hearing loss, and patchy hypo- and hyperpigmentation [en.wikipedia.org]

Clinical description A brother and sister were described as having cutaneous patchy hypo- and hyperpigmentation on the trunk and extremities, gray hair, white brows and lashes. [rarediseases.info.nih.gov]

Symptoms - Yemenite deaf-blind hypopigmentation syndrome cutaneous patchy hypo- and hyperpigmentation on the trunk and extremities gray hair white brows and lashes microcornea (small cornea) coloboma (hole in one of the structures of the eye) abnormalities [checkorphan.org]

[3] It was characterized in 1990, [4] after being seen in two siblings from Yemen who presented with a "hitherto undescribed association of microcornea, colobomata of the iris and choroidea, nystagmus, severe early hearing loss, and patchy hypo- and hyperpigmentation [worldebooklibrary.net]

However, there are several other syndromes which include not only hypopigmentation, but also hyperpigmentation in the phenotype. This paper serves as a review of many of these syndromes. 2011 S. [karger.com]

The diagnosis of Yemenite deaf-blind hypopigmentation syndrome was based on the presence of congenital senorineural hearing loss, nystagmus, hypopigmentations, multiple freckles, patchy white hair and similar dental findings to those from the original [doi.org]

Because of the high doses of UVA and psoralen, PUVA may cause side effects such as sunburn-type reactions or skin freckling. Narrowband ultraviolet B (NBUVB) phototherapy lacks the side-effects caused by psoralens and is as effective as PUVA. [maria-online.com]

Ophthalmologic problems affect 43% of infants, 20% have congenital anomalies of the genitourinary tract, 5% have congenital heart disease, 5% have hearing impairment, and 2% have central nervous system anomalies. [22, 23] Hirschsprung disease is associated [emedicine.medscape.com]