Microcephaly, and Narrow mouth

High match HAMEL CEREBRO-PALATO-CARDIAC SYNDROME

Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term).

• Intellectual disability
• Global developmental delay
• Short stature
• Microcephaly
• Micrognathia

SOURCES: ORPHANET MENDELIAN

High match NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL

NEDDFL is a neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability, poor growth with small head size, dysmorphic facial features, and mild abnormalities of the hands and feet (summary by Stankiewicz et al., 2017).

• Intellectual disability
• Seizures
• Global developmental delay
• Short stature
• Microcephaly

SOURCES: OMIM MENDELIAN

High match AL-RAQAD SYNDROME; ARS

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

SOURCES: OMIM MENDELIAN

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 43; MRD43

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

SOURCES: OMIM MENDELIAN

High match SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION

• Intellectual disability
• Short stature
• Microcephaly
• Strabismus
• Abnormal facial shape

SOURCES: MESH OMIM MENDELIAN

High match MEIER-GORLIN SYNDROME 4; MGORS4

• Intellectual disability
• Short stature
• Microcephaly
• Scoliosis
• Failure to thrive

SOURCES: OMIM MENDELIAN

High match COG1-CDG

COG1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.

COG1-CDG Is also known as congenital disorder of glycosylation type iig|cdgii/cog1 cerebrocostomandibular-like syndrome|cdg iig|cdg2g|cdg-iig|congenital disorder of glycosylation type 2g|cdgiig|carbohydrate deficient glycoprotein syndrome type iig|cdg syndrome type iig

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

SOURCES: ORPHANET OMIM MESH MENDELIAN

High match INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES; IDDSFTA

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

SOURCES: OMIM MENDELIAN

High match JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH RESPIRATORY AND RENAL INVOLVEMENT

Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair.

JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH RESPIRATORY AND RENAL INVOLVEMENT Is also known as jeb-rr|jeb with respiratory and renal involvement|congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome|congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome|congenital ilneb syndrome|conge

• Microcephaly
• Hypertelorism
• Muscular hypotonia
• Fever
• Respiratory distress

SOURCES: OMIM ORPHANET MENDELIAN

High match CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER; CHDFIDD

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

SOURCES: OMIM MENDELIAN