FTND Male. Micrognathia, large tongue, high arched palate, natal teeths. Diagnosis Pierre robin syndrome DD? Possible complications? Rx?

any suggestions for this 5 year old pt with syndrome

Guess the diagnosis of this Rare Case Doctors A 28-day-old male child was brought to the ophthalmology outpatient department with a complaint of redness in both eyes for the past 10 days. It was not associated with any discharge from either of the eyes. The patient was the first child of a 22-year-old woman who delivered at the same hospital at term. There was a history of delayed crying at birth. He was born of a nonconsanguinous marriage and the pedigree analysis revealed no other affected member in the family. The developmental milestones were age appropriate except for hearing deficit as he did not turn his head to sound. He was breast feeding with no difficulty in swallowing. The child was 37 cm long with a body weight of 3 kg. The skull was normal except for an open anterior fontanelle. The facial characteristics were bilaterally symmetrical but abnormal. There were multiple facial dysmorphic features including downward-slanting eyes, malar hypoplasia, mandibular hypoplasia (micrognathia), a large fishlike mouth (macrostomia) with a high arched palate . The tongue was retropositioned but the child had no difficulty in feeding and swallowing. The child had malformed and crumpled bilateral pinnae. The right ear had external auditory canal stenosis and left ear had external auditory canal atresia. He also had pectus carinatum and chest indrawing. Auscultation revealed vesicular breath sounds with prolonged expiration. The abdomen was scaphoid, and there was no other abnormality in the limbs, back, and genitals. The ophthalmological examination revealed antimongoloid slant of the palpebral fissures. The child had bilateral lower lid coloboma (lateral one third) with absence of eyelashes in the entire extent of the lower lids . The inferior conjunctiva was congested in both eyes with superficial haze of the inferior cornea (exposure keratopathy) Source- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5525627/

diagnosis please .C/o recc vomiting from nose and mouth.

ABC OF : HUNTER SYNDROME (MPS II) MUCOPOLYSACCHARIDOSIS etc. MAY BE HELPFUL. *** ALTERNATE NAMES : Hunter syndrome / IDS deficiency / Iduronate 2-sulfatase deficiency / MPS II / MPS2....... *** HUNTER SYNDROME, or mucopolysaccharidosis II (MPS II), is a lysosomal storage disease caused by a deficient (or absent) enzyme, iduronate-2-sulfatase (I2S). The accumulated substrates in Hunter syndrome are heparan sulfate and dermatan sulfate....... The syndrome has X-linked recessive inheritance....... *** CLINICAL FEATURES :- Cardiac disease Coarse facies Corneal clouding Developmental delays Dwarfism Dysostosis Hepatosplenomegaly Hernias IDS Mental retardation Mucopolysaccharidosis Optic atrophy Pigmentary retinopathy....... *** CLINICAL CHARACTERISTICS :- OCULAR FEATURES :-  * CORNEAL CLOUDING may be noted as early as 6 months of age but is usually absent. When present it is milder than in some other forms of mucopolysaccharidosis.   A pigmentary retinopathy with variable severity is often present.  The disc may be elevated and appears swollen.  Secondary optic atrophy may be seen in long standing cases. SYSTEMIC FEATURES :-  * Mild to severe DEVELOPMENTAL DELAYS are common and MENTAL RETARDATION has been reported IN SOME cases.  There is OFTEN 'PEBBLING' OF THE SKIN OVER THE NECK AND CHEST.   * JOINT STIFFNESS, SHORT STATURE, and SKELETAL DEFORMITIES are common.    * Many have short necks, a protuberant abdomen, a broad chest, and facial coarseness.  * Hepatosplenomegaly, hearing loss, hernias, and carpal tunnel syndrome are OFTEN PRESENT.   * The skull is large with a J-shaped sella, the vertebral bodies are hypoplastic anteriorly, the pelvis and femoral heads are hypoplastic and the diaphyses are expanded. ** A SEVERE FORM, TYPE A, has its ONSET in the first TWO TO FOUR YEARS OF LIFE, with more RAPID PROGRESSION AND DEATH commonly by adolescence.   Many patients have OBSTRUCTIVE PULMONARY DISEASE and HEART FAILURE.   ** The IDS deficiency is similar to that of TYPE B which is LESS SEVERE and compatible with life into the 7th decade.  Intelligence is often normal in type B. GENETICS :- Hunter syndrome, or MPS II, is one of seven lysosomal enzyme deficiencies responsible for the degradation of mucopolysaccharides, and the only one known to be X-LINKED (Xq28).  *** The mutation in IDS leads to a deficiency of iduronate sulfatase resulting in accumulation of dermatan and heparin sulfate.  Rare affected females may have chromosomal deletions instead of a simple mutation in IDS. TREATMENT :- VARIOUS THERAPIES ARE UNDER DEVELOPMENT including enzyme replacement, gene transfers, and bone marrow transplantation.  *** Human iduronate-2-sulfatase (Idursulfase) has been used with encouraging signs but it is too early to determine the long term effectiveness. ***** THERE IS NO CURE BUT treatments such as enzyme replacement THERAPIES CAN HELP make the disease more manageable. *** On July 24, 2006, the FDA granted marketing approval forELAPRASE (idursulfase), the first FDA approved enzyme replacement therapy for the treatment for MPS II, also known as Hunter syndrome....... ***** The LIFE EXPECTANCY of these individuals is 10 TO 20 YEARS. Individuals with mild MPS II also have a shortened lifespan, but they typically LIVE INTO ADULTHOOD and their intelligence is not affected. HEART DISEASE and AIRWAY OBSTRUCTION are MAJOR CAUSES OF DEATH in people with both types of MPS II.......