Hypothyroidism may be present at birth or may be acquired during infancy or childhood and is characterized by poor growth (growth deficiency). Other signs of hypothyroidism can include weakness, fatigue, cold intolerance, and weight gain. [rarediseases.org]

We report a female patient who had a scalp hemangioma, a cleft uvula, an upper sternal defect, pectus excavatum, arachnodactyly, pes planus, and joint hypermobility. She had rupture of an aortic aneurysm after minor trauma at 11 years of age. [ncbi.nlm.nih.gov]

Three subjects (50%) had additional hemangioma within the airway located on the epiglottis, vocal folds, posterior pharyngeal wall, and tracheal wall. [ncbi.nlm.nih.gov]

Magnetic resonance imaging (MRI) angiography revealed agenesis of the left internal carotid artery and its reformation by the ascending pharyngeal artery [Figure 3]. [jisppd.com]

Horner syndrome is characterized by a persistently small pupil (miosis), drooping of the eyelid (ptosis), and little to no sweating on the affected side of the face (anhidrosis). [rarediseases.org]

iridis Different colored eyes 0001100 Hypothyroidism Underactive thyroid 0000821 Iris coloboma Cat eye 0000612 Lens coloboma 0100719 Microcephaly Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference [rarediseases.info.nih.gov]

In both cases, intracranial vascular anomalies and hemangiomas were found incidentally during evaluation of unilateral proptosis. [ncbi.nlm.nih.gov]

Horner syndrome is characterized by a persistently small pupil (miosis), drooping of the eyelid (ptosis), and little to no sweating on the affected side of the face (anhidrosis). [rarediseases.org]

Less common findings include abnormally small eyes (microphthalmia), congenital cataracts, improper development of the cornea in which it blends into the white of the eye (sclerocornea), and a cleft of missing tissue in the colored portion of the eye [rarediseases.org]

There was considerable overlap between subset populations with dysphagia, speech delay, and language delay. A subset of individuals with PHACE syndrome experience dysphagia, speech delay, or language delay. [ncbi.nlm.nih.gov]

Acta paediatrica (Oslo, Norway : 1992). 2016 Feb; [PubMed PMID: 26469095] [11] Martin KL,Arvedson JC,Bayer ML,Drolet BA,Chun R,Siegel DH, Risk of dysphagia and speech and language delay in PHACE syndrome. [statpearls.com]

One of the outcomes can be a stroke, symptoms of which include paralysis of the face, arms or legs, loss of speech, etc., or temporary loss of neurologic function of body parts or speech (transient ischemic attack, or “TIA”). [rarediseases.org]

Her height and weight were below the 5th percentile for her chronologic age, and she had amenorrhea. Laboratory investigations revealed both thyroid and GH deficiencies and confirmed the diagnosis of hypogonadotropic hypogonadism. [ncbi.nlm.nih.gov]