Accessory toe(s)
extra toe, additional digit on foot, extra toe at birth
Anencephaly
absence of skull bones, incomplete brain development, exposed brain tissue
Arteriovenous malformation of cerebral vessels
severe headache, seizures, weakness in limbs
Arteriovenous malformation of precerebral vessels
headache, neck pain, dizziness
Choanal atresia
difficulty breathing through nose, nasal blockage from birth, feeding difficulties in newborn
Choledochal cyst
jaundice, abdominal pain, abdominal mass
Cleft hard palate with bilateral cleft lip
gap in roof of mouth, split on both sides of upper lip, feeding difficulties
Cleft lip, median
split in center of upper lip, notch in middle of lip, feeding difficulties
Cleft uvula
split uvula, visible cleft in mouth, nasal regurgitation
Cloverleaf skull
abnormal head shape, bulging forehead, wide-set eyes
Diastrophic dysplasia
short stature, short limbs, curved spine
Dysmorphism due to warfarin
facial abnormalities, nasal bridge flattening, short stature
Ectopic anus
anal opening in wrong position, abnormal stool passage, constipation
Ectopic testes, bilateral
undescended testicles both sides, empty scrotum, absent testes in scrotum
Epidermolysis bullosa dystrophica
skin blistering, fragile skin, scarring
Fragile X chromosome
learning difficulties, delayed speech, intellectual disability
Frontal encephalocele
visible sac on forehead, protrusion from skull, facial deformity
Fusion of labia
joined labia, difficulty urinating, urinary tract infection
Gastroschisis
intestines outside abdomen, visible bowel at birth, abdominal wall defect
Indeterminate sex, unspecified
ambiguous genitalia, unclear sex at birth, genital abnormality
Karyotype 45, X
short stature, delayed puberty, absent periods
Karyotype 47, XXX
tall stature, learning difficulties, speech delay
Karyotype 47, XYY
tall stature, acne, learning difficulties
Laryngocele
hoarse voice, neck swelling, breathing difficulty
MED13L syndrome
developmental delay, intellectual disability, speech delay
Macroglossia
enlarged tongue, tongue protrusion, drooling
Metaphyseal dysplasia
short stature, bowed legs, abnormal bone growth
Other hypospadias
urethral opening on underside of penis, curved penis, abnormal urinary stream
Other malformations of cerebral vessels
headache, dizziness, seizures
Other malformations of precerebral vessels
headache, neck swelling, dizziness
Phelan-McDermid syndrome
developmental delay, speech delay, intellectual disability
Phocomelia, unspecified limb(s)
shortened limbs, absent long bones, hands or feet attached close to body
Polyorchism
extra testicle, three testicles, scrotal swelling
Potter's syndrome
no urine output, kidney abnormality on ultrasound, low amniotic fluid
Schwannomatosis
multiple skin lumps, chronic pain, numbness
X-linked ichthyosis
dry scaly skin, dark scales on skin, itchy skin
Xeroderma pigmentosum
extreme sun sensitivity, severe sunburn from brief exposure, freckling before age 2
Important: General health information only — not medical advice.
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