can you make tldr for this

So from the user’s instructions, I need to “Make a diagnosis based on the following report”, which includes:

Phenotypes: (listed ones)

Excluded phenotypes: (another list)

I need to figure out a diagnosis based on the phenotypic features presented, and considering that certain features are excluded.

So, the goal is to provide a diagnosis based on the phenotypes.

I should carefully analyze the listed phenotypes and excluded phenotypes, and try to match it to known syndromes or conditions.

First, list the included phenotypes:

Included Phenotypes:

Intellectual disability

Global developmental delay

Macrodontia

Triangular face

Thick eyebrow

Abnormality of the hand

Short stature

Motor delay

Delayed speech and language

Feeding difficulties

Low anterior hairline

Strabismus

Anteverted nares

Bulbous nose

Excluded phenotypes:

Atrioventricular canal defect

Patent foramen ovale

Ventricular septal defect

Pulmonic stenosis

Bicuspid aortic valve

Mixed hearing impairment

Microcephaly

Synophrys

So what syndrome is characterized by the included features and lacks the excluded features?

First, it’s intellectual disability and global developmental delay.

Then facial features: triangular face, thick eyebrow, low anterior hairline, strabismus, anteverted nares, bulbous nose.

Then macrodontia (big teeth), abnormality of the hand, short stature, feeding difficulties, delayed speech, motor delay.

I need to think of a genetic syndrome that matches these features.

Notable in the facial features are the triangular face, thick eyebrows, low anterior hairline, bulbous nose, anteverted nares.

Also, macrodontia (big teeth) is a distinctive feature.

Abnormality of the hand, short stature.

Does the combination of triangular face, thick eyebrows, bulbous nose, macrodontia, hand anomalies, short stature, etc., match any known syndromes?

Well, let’s consider Cornelia de Lange syndrome.

But Cornelia de Lange tends to have synophrys (uni-brow), which is an exclusion (synophrys is excluded). Also, microcephaly is an exclusion, and it’s common in Cornelia de Lange.

What about Rubinstein-Taybi syndrome? But that typically has broad thumbs and big toes, but also facial features including downslanting palpebral fissures, arched eyebrows, long eyelashes, and beaked nose.

Also, macrodontia is big teeth. Is that associated with any condition?

Macrodontia is a rare dental anomaly inclusive of large teeth.

Kabuki syndrome features include typical facial features with arched eyebrows with sparse lateral third (similar), but also includes short stature, intellectual disability.

But they commonly have congenital heart defects, which are excluded here (there are several major heart defects excluded).

Trisomy 9p: has triangular face, big eyebrows, microcephaly (but microcephaly is excluded).

Is macrodontia associated with KBG syndrome? KBG syndrome is characterized by macrodontia of upper central incisors, short stature, intellectual disability, characteristic facial features including triangular face, bushy eyebrows, bulbous nasal tip, anteverted nares, low anterior hairline.

Yes! KBG syndrome seems to fit.

KBG syndrome is characterized by:

Macrodontia (especially upper central incisors)

Short stature

Intellectual disability

Triangular face

Bushy eyebrows

Anteverted nares

Bulbous nasal tip

Low anterior hairline

Skeletal anomalies of hands

Delayed speech and motor development

Feeding difficulties sometimes

Strabismus

So this seems to fit.

Moreover, cardiac anomalies in KBG syndrome are less common, and none of the cardiac anomalies are included in the phenotypes.

So the diagnosis is KBG syndrome.