Phenotype #0000238537

Individual ID	00314735
Associated disease	?
Diagnosis/Initial	popliteal pterygium syndrome (Bartsocas-Papas syndrome)
Diagnosis/Definite	BPS
Phenotype details	birth weight 3050 g, height 37.4 cm; alopecia; ectropion, no lagophthalmos, keratitis; corneal ulcerations; no colobomas lower eyelids; ankyloblepharon, blepharophimosis; no eyebrows, no eyelashes; hypoplastic alae nasi, hypoplastic nose; irregular mouth border; hypoplastic oral cavity, hypoplastic nasopharyngeal cavity; orolabial synechia (filiform bands between jaws); no cleft lip, no cleft palate; low set ears; expressionless face; upward slanting palpebral fissures; short neck; micrognathia; short, bowed limbs; digital hypoplasia, thumb aplasia; syndactyly fingers, syndactyly toes; hypoplasia nails; absence palmar/plantar lines; arthrogryposis; clubfoot deformity; flexion contractures; popliteal pterygia, no axillary pterygia, inguinal pterygia; filiform bands between feet, no filiform bands between feet and pelvic region; anal stenosis, no atresia, rectal polyps or skin tags; hypoplastic labia major; low set umbilicus; no inguinal hernia; hypoplasia metacarpals, hypoplasia phalanges; hypoplasia iliac wing, hypoplasia pelvic bones, hypoplasia scapula; MRI cranium normal; abdominal and renal USG normal; no dry, scaly skin; asymmetric nipples, wide-set nipples; no cardiac murmur; ECG normal; no pulmonary hypoplasia; no mental retardation
Inheritance	Familial, autosomal recessive
Age/Examination	13y (13 years)
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