She has short stature, microcephaly, broad forehead with high hair implantation; sparse and fine hair, areas of alopecia; arched eyebrows with upturned hair, synophris; ocular hypertelorism, epicanthal folds, palpebral ptosis; oligodontia; low-set and [ncbi.nlm.nih.gov]

[…] scapula dysplasia Short stature heart defect craniofacial anomalies Short stature hyperkaliemia acidosis Short stature locking fingers Short stature mental retardation eye anomalies Short stature mental retardation eye defects Short stature microcephaly [sosu.us]

stature, and intellectual disabilities) 759.89 Rud's (mental deficiency, epilepsy, and infantilism) 759.89 Russell (-Silver) (congenital hemihypertrophy and short stature) 759.89 Seckel's 759.89 sick Silver's (congenital hemihypertrophy and short stature [icd9data.com]

[…] atresia-mandibular hypoplasia-skeletal anomalies syndrome Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome Short stature-webbed neck-heart disease syndrome [se-atlas.de]

septal defects: relationship with atrial arrhythmias. [wikigenes.org]

septal defect coronary sinus Trisomy 3 mosaicism Syngnathia multiple anomalies VACTERL association Hepatic venoocclusive disease with immunodeficiency Ehlers-Danlos syndrome due to tenascin-X deficiency Typical congenital nemaline myopathy Split hand [checkrare.com]

hernia 0000023 Intrauterine growth retardation Prenatal growth deficiency Prenatal growth retardation [ more ] 0001511 Joint contracture of the hand 0009473 Low-set ears Low set ears Lowset ears [ more ] 0000369 Macrocephaly Increased size of skull Large [rarediseases.info.nih.gov]

We report on a boy with a combination of manifestations reminiscent of aminopterin embryopathy: brachyturricephaly with craniosynostosis, poorly mineralised vault, upslanted palpebral fissures, malar hypoplasia, high-arched palate, micrognathia, thick [ncbi.nlm.nih.gov]

American journal of medical genetics 1993 We report on a boy with a combination of manifestations reminiscent of aminopterin embryopathy: brachyturricephaly with craniosynostosis, poorly mineralised vault, upslanted palpebral fissures, malar hypoplasia, high-arched [semanticscholar.org]

It is characterized by skull ( craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb ( brachydactyly [rarediseases.info.nih.gov]

It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathiacleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly [malacards.org]

We report on a boy with a combination of manifestations reminiscent of aminopterin embryopathy : brachyturricephaly with craniosynostosis, poorly mineralised vault, upslanted palpebral fissures, malar hypoplasia, high-arched palate, micrognathia, thick [wikigenes.org]

Rubinstein-Taybi Syndrome 1 • • • Back to: « Frontal upsweep of hair Causes List for Frontal upsweep of hair List of possible causes of Frontal upsweep of hair or similar symptoms may include: 2 Aminopterin Syndrome Sine Aminopterin (Frontal upsweep [familydiagnosis.com]

upsweep of hair Cowlick Frontal Cowlick Upswept frontal hair [ more ] 0002236 Global developmental delay 0001263 High palate Elevated palate Increased palatal height [ more ] 0000218 Highly arched eyebrow Arched eyebrows Broad, arched eyebrows High, [rarediseases.info.nih.gov]

[…] body height Small stature [ more ] 0004322 Short thumb Short thumbs Small thumbs [ more ] 0009778 Syndactyly Webbed fingers or toes 0001159 Thoracic scoliosis 0002943 Umbilical hernia 0001537 Underdeveloped supraorbital ridges Flattened bony protrusion [rarediseases.info.nih.gov]

disorders syndrome X-linked hypophosphatemia X-linked intellectual disability due to GRIA3 mutations X-linked intellectual disability with isolated growth hormone deficiency X-linked intellectual disability with marfanoid habitus X-linked intellectual [se-atlas.de]

Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ] 0000252 Micrognathia Little lower jaw Small jaw Small lower jaw [ more ] 0000347 Muscular hypotonia Low or weak muscle tone 0001252 Narrow [rarediseases.info.nih.gov]

Metopic Synostosis (trigonocephaly) This form of synostosis is relatively uncommon (less than 10 percent of cases) and is characterized by a bony ridge in the midline of the forehead, a triangularly shaped head, a narrow forehead and eyes that are positioned [cincinnatichildrens.org]