Abnormality of the skeletal system, and Full cheeks

Low match CRISPONI/COLD-INDUCED SWEATING SYNDROME 3; CISS3

Crisponi/cold-induced sweating syndrome-3 is an autosomal recessive disorder characterized by infantile-onset hyperthermia and abnormal paroxysmal contractions of the facial and oropharyngeal muscles, resulting in feeding and respiratory difficulties. Other features include joint contractures and camptodactyly. Death in infancy may occur, and those that survive may develop retinitis pigmentosa later in childhood. Individuals with some forms of Crisponi syndrome may develop paradoxical cold-induced sweating later in childhood, although this is a variable finding (summary by Angius et al., 2016).For a discussion of genetic heterogeneity of Crisponi/cold-induced sweating syndrome, see CISS1 (OMIM ).

• Flexion contracture
• High palate
• Feeding difficulties
• Depressed nasal bridge
• Fever

SOURCES: OMIM MENDELIAN

Low match ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY; APUG

• Flexion contracture
• Ventricular septal defect
• Atrial septal defect
• Camptodactyly
• Arthrogryposis multiplex congenita

SOURCES: OMIM MENDELIAN

Low match ACUTE INFANTILE LIVER FAILURE-MULTISYSTEMIC INVOLVEMENT SYNDROME

Acute infantile liver failure-multisystemic involvement syndrome is a rare, genetic, parenchymal hepatic disease characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate. Other associated features include hepatosteatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure.

• Seizures
• Global developmental delay
• Generalized hypotonia
• Microcephaly
• Failure to thrive

SOURCES: OMIM ORPHANET MENDELIAN

Low match 1P21.3 MICRODELETION SYNDROME

1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder(see this term).

1P21.3 MICRODELETION SYNDROME Is also known as monosomy 1p21.3|del(1)p(21.3)

• Intellectual disability
• Global developmental delay
• Micrognathia
• Delayed speech and language development
• Myopia

SOURCES: ORPHANET MENDELIAN

Low match LARGE CONGENITAL MELANOCYTIC NEVUS

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

Low match GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY; GRIDHH

GRIDHH is an autosomal recessive multisystem disorder characterized by intellectual disability, poor overall growth, hypotonia, and variable liver dysfunction. Additional features, such as seizures and hearing loss, may also be present (summary by Kopajtich et al., 2016).

• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia
• Hearing impairment

SOURCES: OMIM MENDELIAN

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46; EIEE46

• Seizures
• Global developmental delay
• Generalized hypotonia
• Microcephaly
• Failure to thrive

SOURCES: OMIM MENDELIAN

Low match SPASTIC PARAPLEGIA-INTELLECTUAL DISABILITY-NYSTAGMUS-OBESITY SYNDROME

Spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) is an autosomal dominant neurologic disorder characterized by rapid growth in infancy, global developmental delay, spastic paraplegia, variable ophthalmologic defects, and dysmorphic facial features (summary by Josifova et al., 2016).

SPASTIC PARAPLEGIA-INTELLECTUAL DISABILITY-NYSTAGMUS-OBESITY SYNDROME Is also known as sino syndrome

• Intellectual disability
• Global developmental delay
• Generalized hypotonia
• Nystagmus
• Abnormal facial shape

SOURCES: ORPHANET OMIM MENDELIAN

Low match GELEOPHYSIC DYSPLASIA 2; GPHYSD2

• Short stature
• Hypertelorism
• Hepatomegaly
• Respiratory insufficiency
• Short nose

SOURCES: OMIM MENDELIAN

Low match LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA; LIS7

Lissencephaly-7 with cerebellar hypoplasia is a severe neurodevelopmental disorder characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy (summary by Magen et al., 2015).For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (OMIM ).

• Seizures
• Global developmental delay
• Microcephaly
• Micrognathia
• Abnormal facial shape

SOURCES: OMIM MENDELIAN