Atelosteogenesis type 2 Overview Atelosteogenesis type 2 is a severe, rare genetic disorder of cartilage and bone development that is typically lethal around the time of birth. Symptoms Short limbs: Infants have severely shortened arms and legs (micromelia) due to underdevelopment of the bones. Chest and abdomen: Affected babies typically present with a narrow, small chest alongside a prominent, rounded (protuberant) abdomen. Cleft palate: There is an opening in the roof of the mouth. Facial features: Distinctive or abnormal facial dysmorphism is common. Foot deformities: Clubfoot (talipes equinovarus), where the foot turns inward and downward, frequently occurs. Hand and foot positioning : Unusually positioned "hitchhiker" or abducted thumbs and toes are characteristic findings, along with gaps between the first and second toes and ulnar deviation of the fingers Deficient ossification : Parts of the skeleton lack proper bone hardening and development. Spinal abnormalitie...
Cytochrome P450 oxidoreductase deficiency (PORD) Overview Cytochrome P450 oxidoreductase deficiency (PORD) is a rare genetic disorder of hormone production that causes abnormal bone development, atypical genital development, and problems with cortisol. Symptoms Primary amenorrhea: Failure to start menstruation by age 16.Infertility: Affects both men and women Polycystic ovary syndrome (PCOS): Hormonal imbalance causing irregular periods, ovarian cysts, acne, or excess hair growth. Hypogonadism: Poor hormone production in males, leading to delayed puberty. Ambiguous genitalia: External sex organs that do not look clearly male or female in newborns of either genetic sex. Cortisol deficiency: Partial reduction in the stress hormone cortisol, which can lead to life-threatening adrenal crisis during severe stress or illness. Maternal virilization: Development of male-pattern secondary sex characteristics in pregnant women carrying an...