Downslanted palpebral fissures, and Abnormal blistering of the skin

High match 1P36 DELETION SYNDROME

1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.

1P36 DELETION SYNDROME Is also known as del(1)(p36)|monosomy 1p36|monosomy 1pter|deletion 1pter|deletion 1p36|monosomy 1p36 syndrome|subtelomeric 1p36 deletion

• Intellectual disability
• Seizures
• Global developmental delay
• Short stature
• Generalized hypotonia

SOURCES: ORPHANET OMIM MESH MENDELIAN

Low match ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS; ECTD14

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Ectodermal dysplasia-14 of the hair/tooth type is primarily characterized by scalp hypotrichosis and hypodontia. Some patients have decreased sweating, and some show subtle facial dysmorphism (Peled et al., 2016).

• Abnormal facial shape
• Downslanted palpebral fissures
• Hyperhidrosis
• Hypotrichosis
• Thick vermilion border

SOURCES: OMIM MENDELIAN

Low match ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE; ECTD13

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia-13 of the hair/tooth type is characterized by severe oligodontia accompanied by anomalies of hair and skin (Issa et al., 2016).

• Hypertelorism
• Abnormal facial shape
• Depressed nasal bridge
• Wide nasal bridge
• Downslanted palpebral fissures

SOURCES: OMIM MENDELIAN

Low match PILAROWSKI-BJORNSSON SYNDROME; PILBOS

Pilarowski-Bjornsson syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed development, intellectual disability, often with autistic features, speech apraxia, and mild dysmorphic features. Some patients may have seizures. The phenotype is somewhat variable (summary by Pilarowski et al., 2017).

PILAROWSKI-BJORNSSON SYNDROME; PILBOS Is also known as developmental delay and speech apraxia with or without seizures

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

SOURCES: OMIM MENDELIAN

Low match NOONAN SYNDROME 9; NS9

Noonan syndrome is an autosomal dominant disorder characterized by short stature, craniofacial dysmorphism, short and/or webbed neck, cardiac abnormalities, cryptorchidism, and coagulation defects (summary by Yamamoto et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

• Global developmental delay
• Short stature
• Hypertelorism
• Abnormal facial shape
• Cryptorchidism

SOURCES: OMIM MENDELIAN

Low match FAMILIAL CONGENITAL NASOLACRIMAL DUCT OBSTRUCTION

Congenital nasolacrimal drainage system impatency is relatively common, occurring in approximately 20% of children within the first year of life. Such infants typically manifest persistent epiphora and/or recurrent infections of the lacrimal pathway such as conjunctivitis. The most frequent site of such obstruction occurs at the distal intranasal segment of the nasolacrimal drainage system at the valve of Hasner (summary by Wang and Cunningham, 2011).Congenital dacryocystocele, an uncommon variant of nasolacrimal duct obstruction, characterized by the appearance of a cystic blue mass over the area of the lacrimal duct soon after birth. Dacryocystoceles are thought to result from a persistent membrane at the valve of Hasner and a functional obstruction of the common canaliculus or valve of Rosenmuller. The resulting lacrimal sac distention has been reported to be more common in female and non-Hispanic white patients, and familial cases have been described only sporadically. Common presenting signs include dacryocystitis, facial cellulitis, and respiratory distress; the development of astigmatism in association with dacryocystocele has only rarely been observed (summary by Shekunov et al., 2010).

FAMILIAL CONGENITAL NASOLACRIMAL DUCT OBSTRUCTION Is also known as nasolacrimal duct obstruction|lacrimal puncta, absence of

• Hypertelorism
• Abnormal facial shape
• Downslanted palpebral fissures
• Respiratory distress
• Recurrent infections

SOURCES: OMIM MESH ORPHANET MENDELIAN

Low match SKELETAL OVERGROWTH-CRANIOFACIAL DYSMORPHISM-HYPERELASTIC SKIN-WHITE MATTER LESIONS SYNDROME

Kosaki overgrowth syndrome is characterized by a facial gestalt involving prominent forehead, proptosis, downslanting palpebral fissures, wide nasal bridge, thin upper lip, and pointed chin. Affected individuals are tall, with an elongated lower segment, hands, and feet. Skin is hyperelastic and fragile, and there is progressive neurologic deterioration with white matter lesions on brain imaging (Takenouchi et al., 2015).

SKELETAL OVERGROWTH-CRANIOFACIAL DYSMORPHISM-HYPERELASTIC SKIN-WHITE MATTER LESIONS SYNDROME Is also known as skeletal overgrowth with facial dysmorphism, hyperelastic skin, white matter lesions, and neurologic deterioration|kosaki overgrowth syndrome

• Scoliosis
• Neoplasm
• Ptosis
• Depressed nasal bridge
• Wide nasal bridge

SOURCES: OMIM ORPHANET MENDELIAN

Low match CCDC115-CDG

Congenital disorder of glycosylation type IIo (CDG2O) is an autosomal recessive metabolic disorder characterized by infantile onset of progressive liver failure, hypotonia, and delayed psychomotor development. Laboratory abnormalities include elevated liver enzymes, coagulation factor deficiencies, hypercholesterolemia, and low ceruloplasmin. Serum isoelectric focusing of proteins shows a combined defect of N- and O-glycosylation, suggestive of a Golgi defect (summary by Jansen et al., 2016).For a general discussion of CDGs, see CDG1A (OMIM ).

CCDC115-CDG Is also known as cdgiio|carbohydrate deficient glycoprotein syndrome type iio|congenital disorder of glycosylation type 2o|cdg-iio|cdg syndrome type iio|cdg iio|cdg2o|congenital disorder of glycosylation type iio

• Seizures
• Global developmental delay
• Generalized hypotonia
• Ptosis
• Hepatomegaly

SOURCES: OMIM ORPHANET MENDELIAN

Low match CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF

Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, {222600}). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).

• Hypertelorism
• Cleft palate
• Low-set ears
• Depressed nasal bridge
• Downslanted palpebral fissures

SOURCES: OMIM MENDELIAN

Low match INTELLECTUAL DISABILITY-EXPRESSIVE APHASIA-FACIAL DYSMORPHISM SYNDROME

INTELLECTUAL DISABILITY-EXPRESSIVE APHASIA-FACIAL DYSMORPHISM SYNDROME Is also known as intellectual disability-loss of expressive language-facial dysmorphism syndrome

• Intellectual disability
• Seizures
• Global developmental delay
• Hypertelorism
• Ptosis

SOURCES: ORPHANET OMIM MENDELIAN