Cleft palate, and Nevus

Low match FOCAL FACIAL DERMAL DYSPLASIA TYPE IV

Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD; see this term), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions.

FOCAL FACIAL DERMAL DYSPLASIA TYPE IV Is also known as ffdd type iv|focal facial dermal dysplasia 4|focal facial preauricular dysplasia|ffdd4

• Microcephaly
• Cleft palate
• Hydrocephalus
• Cleft lip
• Sparse hair

SOURCES: OMIM ORPHANET MENDELIAN

Low match BECKWITH-WIEDEMANN SYNDROME DUE TO IMPRINTING DEFECT OF 11P15

• Seizures
• Neoplasm
• Muscle weakness
• Cleft palate
• Cryptorchidism

SOURCES: ORPHANET MENDELIAN

Low match CONGENITAL CATARACT-MICROCEPHALY-NEVUS FLAMMEUS SIMPLEX-SEVERE INTELLECTUAL DISABILITY SYNDROME

Basel-Vanagaite-Smirin-Yosef syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by severely delayed psychomotor development resulting in mental retardation, as well as variable eye, brain, cardiac, and palatal abnormalities (summary by Basel-Vanagaite et al., 2015).

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

SOURCES: OMIM ORPHANET MENDELIAN

Low match THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME

Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia.

THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME Is also known as tar syndrome

• Scoliosis
• Micrognathia
• Sensorineural hearing impairment
• Cleft palate
• Thrombocytopenia

SOURCES: ORPHANET MENDELIAN

Low match BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION

• Strabismus
• Cleft palate
• Cryptorchidism
• Hepatomegaly
• Ventricular septal defect

SOURCES: ORPHANET MENDELIAN

Low match HYDATIDIFORM MOLE, RECURRENT, 2; HYDM2

A hydatidiform mole is an abnormal pregnancy characterized by hydropic placental villi, trophoblastic hyperplasia, and poor fetal development. Familial recurrent hydatidiform mole is an autosomal recessive condition in which women experience recurrent pregnancy losses, predominantly complete hydatidiform mole (CHM). However, unlike sporadic CHMs, which are androgenetic with 2 paternal chromosome complements, CHMs associated with familial recurrence are genetically biparental in origin with both a maternal and a paternal contribution to the genome. Other pregnancy losses in this condition include partial hydatidiform mole, stillbirths, ectopic pregnancies, early neonatal deaths, and miscarriages, some of which may be undiagnosed molar pregnancies. Normal pregnancies are extremely rare in families with this condition (summary by Fallahian et al., 2013).For a discussion of genetic heterogeneity of recurrent hydatidiform mole, see HYDM1 (OMIM ).

HYDATIDIFORM MOLE, RECURRENT, 2; HYDM2 Is also known as hydatidiform mole, complete

• Nevus

SOURCES: OMIM ORPHANET MENDELIAN

Low match CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME

Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease, see this term), associated with acanthosis nigricans (AN; see this term).

CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME Is also known as crouzon-dermoskeletal syndrome|crouzonodermoskeletal syndrome

• Short stature
• Hypertelorism
• Failure to thrive
• Strabismus
• Cleft palate

SOURCES: OMIM MESH ORPHANET MENDELIAN

Low match BECKWITH-WIEDEMANN SYNDROME DUE TO 11P15 MICRODELETION

• Microcephaly
• Hypertelorism
• Cleft palate
• Cryptorchidism
• Epicanthus

SOURCES: ORPHANET MENDELIAN

Low match CUTIS GYRATA-ACANTHOSIS NIGRICANS-CRANIOSYNOSTOSIS SYNDROME

Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome, also known as Beare-Stevenson syndrome (BSS), is a severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia). Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy.

CUTIS GYRATA-ACANTHOSIS NIGRICANS-CRANIOSYNOSTOSIS SYNDROME Is also known as beare-stevenson syndrome|cutis gyrata syndrome of beare and stevenson|beare-stevenson cutis gyrata syndrome

• Global developmental delay
• Hypertelorism
• Strabismus
• Cleft palate
• Cryptorchidism

SOURCES: MESH OMIM ORPHANET MENDELIAN

Low match CORNELIA DE LANGE SYNDROME 5; CDLS5

Cornelia de Lange syndrome is a clinically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. About 60% of patients have mutations in the NIPBL gene (OMIM ) on chromosome 5p13 (CDLS1 ), and about 4 to 6% of patients have mutations in the X-linked SMC1A gene (OMIM ) (CDLS2 ) (summary by Musio et al., 2006, Hoppman-Chaney et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.

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

SOURCES: OMIM MENDELIAN