0000160 Oligodontia Failure of development of more than six teeth 0000677 Oligohydramnios Low levels of amniotic fluid 0001562 Patent ductus arteriosus 0001643 Periventricular heterotopia 0007165 Platyspondyly Flattened vertebrae 0000926 Pneumothorax Collapsed [rarediseases.info.nih.gov]

[…] dyshormonogenesis, hypothalamic-pituitary hypothyroidism –Physical findings include prolonged jaundice, macroglossia, doughy skin, umbilical hernia, weak hoarse cry, hypotonia, poor feeding, sparse hair, dry skin, constipation, abdominal distension, poor [checkorphan.org]

1/4,000 live births, more in females (2:1) –Ectopic thyroid gland is the most common etiology; may also be caused by thyroid dysgenesis, thyroid dyshormonogenesis, hypothalamic-pituitary hypothyroidism –Physical findings include prolonged jaundice, macroglossia [checkorphan.org]

[…] occurs in 1/4,000 live births, more in females (2:1) –Ectopic thyroid gland is the most common etiology; may also be caused by thyroid dysgenesis, thyroid dyshormonogenesis, hypothalamic-pituitary hypothyroidism –Physical findings include prolonged jaundice [checkorphan.org]

spots of iris, clinodactyly, single palmar crease, cardiac defects, brachycephaly, protruding tongue, short neck, large space between first and second toes –Apert syndrome –Trisomy 13 –Trisomy 18 –Silver-Russell syndrome –Cleidocranial dysostosis –Kenny [checkorphan.org]

[…] formation of skull 0004331 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Everted lower lip vermilion Drooping lower lip Outward turned lower lip [ more ] 0000232 Failure to thrive Faltering weight Weight faltering [ more ] 0001508 Generalized hirsutism [rarediseases.info.nih.gov]

Mild hirsutism extended down her back. Her smooth skin, without atrophy or abnormal pigmenta- tion, was notably wrinkled and markedly redundant, especially in the neck and truncal regions. [docslide.net]

[…] abdominal wall musculature Abdominal situs inversus Megacystis Seizures Anxiety Gastroesophageal reflux Short distal phalanx of finger Lipoatrophy Everted lower lip vermilion Abnormality of the hair Wide anterior fontanel Abnormality of the nail Generalized hirsutism [mendelian.co]

nose Decreased length of nose Shortened nose [ more ] 0003196 Smooth philtrum 0000319 Sparse scalp hair Scalp hair, thinning Sparse, thin scalp hair sparse-absent scalp hair [ more ] 0002209 Synophrys Monobrow Unibrow [ more ] 0000664 Thin upper lip [rarediseases.info.nih.gov]

nose ; Short palpebral fissure ; Short stature ; Small nail ; Smooth philtrum ; Sparse scalp hair ; Syndactyly ; Synophrys ; Thin upper lip vermilion ; Triangular face ; Tricuspid regurgitation ; Turricephaly ; Umbilical hernia ; Underdeveloped supraorbital [mousephenotype.org]

nose Microphthalmia Polydactyly Cleft lip Cleft upper lip Abnormality of the kidney Failure to thrive Thick eyebrow Muscular hypotonia Arachnodactyly Hyperlordosis Attention deficit hyperactivity disorder Hypermetropia Short foot Small hand Small nail [mendelian.co]

face * Short stature * Small face * Underdeveloped end bones of fingers * Thick eyebrows * Umbilical hernia * Shagreen patch * Reduced fat under skin Causes - Progeroid syndrome Petty type * Hypothyroidism –Primary congenital hypothyroidism occurs in [checkorphan.org]

nasal root [ more ] 0005280 Feeding difficulties Feeding problems Poor feeding [ more ] 0011968 Gastroesophageal reflux Acid reflux Acid reflux disease Heartburn [ more ] 0002020 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 [rarediseases.info.nih.gov]

[…] broad flat nose –Acquired hypothyroidism is most commonly due to iodine deficiency or chronic autoimmune thyroiditis * Increased intracranial pressure –Usually accompanied by increased head circumference –Hydrocephalus –Trauma –Acute CNS infections (meningitis [checkorphan.org]