Phenotype #0000238538

Individual ID	00314736
Associated disease	?
Diagnosis/Initial	popliteal pterygium syndrome (Bartsocas-Papas syndrome)
Diagnosis/Definite	BPS
Phenotype details	57d-deceased; birth weight 2200 g, height 35 cm; alopecia; ectropion, lagophthalmos, keratitis; corneal ulcerations; no ankyloblepharon, no blepharophimosis; no eyebrows, no eyelashes; hypoplastic alae nasi, hypoplastic nose; irregular mouth border; orolabial synechia (filiform bands between jaws); bilateral cleft lip, cleft palate; low set ears; expressionless face; upward slanting palpebral fissures; no short neck; short, bowed limbs; digital hypoplasia, thumb aplasia; syndactyly fingers, syndactyly toes; hypoplasia nails; absence palmar/plantar lines; clubfoot deformity; flexion contractures; popliteal pterygia, axillary pterygia, inguinal pterygia; no filiform bands between feet, filiform bands between feet and pelvic region; no anal stenosis, no atresia, no rectal polyps or skin tags; micropenis, hypoplastic scrotum; low set umbilicus; inguinal hernia; unilateral left radius aplasia; bowing of ulnae; hypoplasia metacarpals, hypoplasia phalanges; hypoplasia iliac wing; USG ectopic kidney; dry, scaly skin; no asymmetric nipples, wide-set nipples; no cardiac murmur; no pulmonary hypoplasia
Inheritance	Familial, autosomal recessive
Age/Examination	57d
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-10-15 09:30:22 +02:00 (CEST)
Date last edited	N/A