Delayed speech and language development, and Ambiguous genitalia

Low match PONTOCEREBELLAR HYPOPLASIA, TYPE 7; PCH7

Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development (see this term) in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.

PONTOCEREBELLAR HYPOPLASIA, TYPE 7; PCH7 Is also known as ;pch7; pontocerebellar hypoplasia-46,xy disorder of sex development syndrome

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia

SOURCES: SCTID DOID UMLS OMIM ORPHANET MONDO

Low match ABLEPHARON-MACROSTOMIA SYNDROME; AMS

Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term).

ABLEPHARON-MACROSTOMIA SYNDROME; AMS Is also known as ;

• Autosomal recessive inheritance
• Autosomal dominant inheritance
• Global developmental delay
• Hearing impairment
• Microcephaly

SOURCES: SCTID MONDO GARD MESH OMIM UMLS ORPHANET DOID

Low match GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES; GRDF

• Autosomal dominant inheritance
• Global developmental delay
• Short stature
• Generalized hypotonia
• Motor delay

SOURCES: UMLS OMIM MONDO

Low match JOUBERT SYNDROME 15; JBTS15

Joubert syndrome-15 is an autosomal recessive developmental disorder characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation. Other features, such as polydactyly, breathing abnormalities, and oculomotor apraxia, are variable (summary by Lee et al., 2012).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

JOUBERT SYNDROME 15; JBTS15 Is also known as ;acs

• Autosomal recessive inheritance
• Intellectual disability
• Global developmental delay
• Generalized hypotonia
• Hypertelorism

SOURCES: SCTID ORPHANET UMLS OMIM

Low match SECKEL SYNDROME 9; SCKL9

• Autosomal recessive inheritance
• Global developmental delay
• Short stature
• Microcephaly
• Growth delay

SOURCES: UMLS MONDO DOID OMIM

Low match LISSENCEPHALY, X-LINKED, 2; LISX2

X-linked lissencephaly-2 (LISX2) is a developmental disorder characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia. Males are severely affected and often die within the first days or months of life, whereas females may be unaffected or have a milder phenotype (Bonneau et al., 2002). LISX2 is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from hydranencephaly and lissencephaly to Proud syndrome (OMIM ) to infantile spasms without brain malformations (EIEE1 ) to syndromic (OMIM ) and nonsyndromic (OMIM ) mental retardation (Kato et al., 2004; Wallerstein et al., 2008).For a general phenotypic description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (OMIM ).

LISSENCEPHALY, X-LINKED, 2; LISX2 Is also known as lissencephaly, x-linked, with ambiguous genitalia;xlag, xlisg;x-linked lissencephaly with ambiguous genitalia; x-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome; xlag (x-linked lissencephaly with abnormal genitalia) syndrome

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

SOURCES: MONDO UMLS GARD MESH SCTID ORPHANET OMIM

Low match OPITZ GBBB SYNDROME, TYPE I; GBBB1

The Opitz GBBB syndrome is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects (So et al., 2005).This disorder was first reported as 2 separate entities, BBB syndrome and G syndrome; subsequent reports of families in which the BBB and G syndromes segregated within a single kindred suggested that they represent a single entity. Genetic HeterogeneitySee also GBBB2 (OMIM ), caused by mutation in the SPECC1L gene (OMIM ) on chromosome 22q11.

OPITZ GBBB SYNDROME, TYPE I; GBBB1 Is also known as opitz gbbb syndrome, x-linked, opitz syndrome;os, opitz syndrome, x-linked;osx, opitz-g syndrome, type i;ogs1, opitz bbbg syndrome, type i;bbbg1, hypertelorism with esophageal abnormality and hypospadias, hypertelorism-hypospadias syndrome, telecanthus-hypospadias syndrome

• Intellectual disability
• Global developmental delay
• Pica
• Hypertelorism
• Sensorineural hearing impairment

SOURCES: OMIM ORPHANET

Low match SIFRIM-HITZ-WEISS SYNDROME; SIHIWES

Sifrim-Hitz-Weiss syndrome is an autosomal dominant intellectual disability syndrome associated with variable congenital defects affecting other systems, including cardiac, skeletal, and urogenital. Some patients may have short stature, enlarged head circumference, hearing loss, and nonspecific dysmorphic facial features (summary by Sifrim et al., 2016 and Weiss et al., 2016).

SIFRIM-HITZ-WEISS SYNDROME; SIHIWES Is also known as sifrim-hitz-weiss multiple congenital anomalies-mental retardation syndrome

• Autosomal dominant inheritance
• Intellectual disability
• Global developmental delay
• Short stature
• Generalized hypotonia

SOURCES: UMLS MONDO OMIM

Low match COUSIN SYNDROME

Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism.

COUSIN SYNDROME Is also known as craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature, pelviscapular dysplasia;cousin syndrome; familial pelvis-scapular dysplasia

• Autosomal recessive inheritance
• Global developmental delay
• Short stature
• Hearing impairment
• Hypertelorism

SOURCES: MESH UMLS GARD MONDO SCTID OMIM ORPHANET

Low match FILIPPI SYNDROME; FLPIS

Filippi syndrome is characterized by short stature, microcephaly, syndactyly, intellectual disability, and facial dysmorphism consisting of bulging forehead, broad and prominent nasal bridge, and diminished alar flare. Common features include cryptorchidism, speech impairment, and clinodactyly of the fifth finger, Some patients exhibit visual disturbances, polydactyly, seizures, and/or ectodermal abnormalities, such as nail hypoplasia, long eyelashes, hirsutism, and microdontia (summary by Hussain et al., 2014).

FILIPPI SYNDROME; FLPIS Is also known as syndactyly, type i, with microcephaly and mental retardation, scott craniodigital syndrome with mental retardation;type 1 syndactyly-microcephaly-intellectual disability syndrome

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Short stature

SOURCES: ORPHANET GARD MESH UMLS SCTID OMIM MONDO