Coarse facial features including Coffin-Siris-like disorders



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Coarse facial features including Coffin-Siris-like disorders

Name:

Date of Birth:

MRN Number:

Family Number:



Phenotype Description

Phenotype Present

Unknown

Yes

No

Coarse facial features

 

 

 

Delayed gross motor development

 

 

 

Delayed fine motor development

 

 

 

Delayed speech and language development

 

 

 

Global developmental delay

 

 

 

Intellectual disability

 

 

 

Feeding difficulties in infancy

 

 

 

Muscular hypotonia

 

 

 

Seizures

 

 

 

Hearing impairment

 

 

 

Visual impairment

 

 

 

Hirsutism

 

 

 

Sparse hair

 

 

 

Low anterior hairline

 

 

 

Synophrys

 

 

 

Thick eyebrow

 

 

 

Prominent eyelashes

 

 

 

Gingival overgrowth

 

 

 

Abnormality of the pinna

 

 

 

Wide intermamillary distance

 

 

 

Pectus excavatum

 

 

 

Pectus carinatum

 

 

 

Cryptorchidism

 

 

 

Umbilical hernia

 

 

 

Short 5th finger

 

 

 

Aplasia of the distal phalanx of the 5th finger

 

 

 

Prominent interphalangeal joints

 

 

 

Deep palmar crease

 

 

 

Deep plantar creases

 

 

 

Hypoplastic fifth fingernail

 

 

 

Hypoplastic fifth toenail

 

 

 

Malformation of the heart and great vessels

 

 

 

Abnormality of the kidney

 

 

 

Hepatomegaly

 

 

 

Splenomegaly

 

 

 

Hypoplasia of the corpus callosum

 

 

 



ADDITIONAL PHENOTYPING

 

 

 

Phenotype Description

Phenotype Present

Unknown

Yes

No

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 



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