Acceptable weight gain was obtained after introduction of formula milk. The boy was referred to the Copenhagen Craniofacial Unit at Rigshospitalet, University of Copenhagen. [ncbi.nlm.nih.gov]

Alobar holoprosencephaly Lobar holoprosencephaly Microform holoprosencephaly Midline interhemispheric variant of holoprosencephaly Semilobar holoprosencephaly Septopreoptic holoprosencephaly Autosomal dominant hyper-IgE syndrome Chronic mucocutaneous candidiasis [csbg.cnb.csic.es]

In early pregnancy she experienced acute abdominal pain. At laparoscopy a ruptured tubal pregnancy was found, indicating a heterotopic pregnancy, and a salpingectomy was performed. [ncbi.nlm.nih.gov]

[…] to partial STAT1 deficiency Susceptibility to viral and mycobacterial infections Isolated NADH-CoQ reductase deficiency Monomelic amyotrophy Pycnodysostosis Autosomal dominant hypophosphatemic rickets Deafness with labyrinthine aplasia, microtia, and microdontia [csbg.cnb.csic.es]

No skin changes such as hyperkeratotic papules or pigmentations were noted. He gradually developed hydrocephalus and at age 9 weeks a 3D craniofacial CT scan was done. [ncbi.nlm.nih.gov]

Frontal bossing / prominent forehead - High forehead Frequent - Abnormal vertebral size / shape - Arnold-Chiari anomaly - Brachycephaly / flat occiput - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Choanal atresia - Chronic uveitis / blepharitis [csbg.cnb.csic.es]

Cranial hypertension - Hydrocephaly - Hypertelorism - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Metacarpal anomalies / Archibald's sign - Mid-facial hypoplasia / short / small midface - Proptosis / exophthalmos - Ptosis - Short [csbg.cnb.csic.es]

We report on an infant who presented at birth with multisuture synostosis, turribrachycephaly, midface hypoplasia, beaked nose, low set ears, a high palate and short squat appearing thumbs, and great toes without deviation. [onlinelibrary.wiley.com]

The craniosynostosis causes changes to the shape of the head as well as unique facial features that may include wide-set eyes, a beaked nose, and a small upper jaw. [diseaseinfosearch.org]

nose - Facial pain / cephalalgia / migraine - High vaulted / narrow palate - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Sacro-coccyx / sacrum anomaly - [csbg.cnb.csic.es]

They include prematurely fused skull bones, which affect the shape of the head and face; wide-set, bulging eyes due to shallow eye sockets; eyes that do not point in the same direction ( strabismus ); a small, beaked nose; and an underdeveloped upper [en.wikipedia.org]

Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. ( 7493034 ) Meyers GA...Jabs EW 1995 38 'Yes we can' creativity spurs system to new successes. ( 2227890 ) Johnsson J 1990 39 Child abuse and neglect [malacards.org]