Abnormal facial shape, and Everted lower lip vermilion

Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia, Cantù type (see these terms).

HYPERTRICHOSIS-ACROMEGALOID FACIAL APPEARANCE SYNDROME Is also known as haff|hypertrichosis-coarse face syndrome|hypertrichosis-acromegaloid facial features syndrome

• Intellectual disability
• Coarse facial features
• Blepharophimosis
• Joint hyperflexibility
• Bulbous nose

SOURCES: ORPHANET MENDELIAN

X-linked intellectual disability, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, SHASHI TYPE Is also known as shashi x-linked mental retardation syndrome|syndromic x-linked intellectual disability type 11|smrxs|mental retardation, x-linked, shashi type

• Intellectual disability
• Seizures
• Hearing impairment
• Sensorineural hearing impairment
• Delayed speech and language development

SOURCES: MESH ORPHANET OMIM MENDELIAN

MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38 Is also known as psychomotor retardation, epilepsy, and language disability syndrome|prelds

• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia
• Microcephaly

SOURCES: OMIM MENDELIAN

Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disorder characterized by facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation. Laboratory studies of patient cells show hypomethylation of satellite regions of chromosomes 1, 9, and 16, as well as pericentromeric chromosomal instability in response to phytohemagglutinin stimulation (summary by de Greef et al., 2011).For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (OMIM ).

• Intellectual disability
• Global developmental delay
• Growth delay
• Hypertelorism
• Abnormal facial shape

SOURCES: OMIM MENDELIAN

A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation.

LARGE CONGENITAL MELANOCYTIC NEVUS Is also known as gphn|pigmented moles|lcmn|giant congenital pigmented nevus|giant congenital melanocytic nevus|congenital pigmented nevus|giant pigmented hairy nevus|gmn

• Seizures
• Hypertelorism
• Neoplasm
• Failure to thrive
• Hydrocephalus

SOURCES: ORPHANET OMIM MENDELIAN

Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome (see this term) with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome (see these terms).

ACROMEGALOID FACIAL APPEARANCE SYNDROME Is also known as afa syndrome|thick lips and oral mucosa

• Seizures
• Hypertelorism
• Micrognathia
• Intellectual disability, mild
• Coarse facial features

SOURCES: ORPHANET MENDELIAN

Ververi-Brady syndrome is a disorder characterized by mild developmental delay, mild intellectual disability and speech delay, and mild dysmorphic facial features. Affected individuals can usually attend mainstream schools with support, and may also show autistic features (summary by Ververi et al., 2018).

• Intellectual disability
• Global developmental delay
• Generalized hypotonia
• Microcephaly
• Growth delay

SOURCES: OMIM MENDELIAN

MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA Is also known as mfda

• Hearing impairment
• Micrognathia
• Abnormal facial shape
• Cleft palate
• Low-set ears

SOURCES: ORPHANET OMIM MENDELIAN

• Intellectual disability
• Short stature
• Microcephaly
• Growth delay
• Abnormal facial shape

SOURCES: OMIM MENDELIAN

SOTOS SYNDROME 2; SOTOS2 Is also known as malan syndrome

• Intellectual disability
• Generalized hypotonia
• Scoliosis
• Nystagmus
• Strabismus

SOURCES: OMIM MENDELIAN