Frontal bossing, and Prominent forehead

High match ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE

Acromesomelic dysplasia, Maroteaux type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type (see these terms).

• Scoliosis
• Depressed nasal bridge
• Brachydactyly
• Frontal bossing
• Kyphosis

SOURCES: ORPHANET MENDELIAN

High match MENTAL RETARDATION, X-LINKED 93; MRX93

MENTAL RETARDATION, X-LINKED 93; MRX93 Is also known as mental retardation, x-linked, with macrocephaly

• Intellectual disability
• Generalized hypotonia
• Muscular hypotonia
• Cryptorchidism
• Delayed speech and language development

SOURCES: OMIM MESH MENDELIAN

High match ULNAR/FIBULA RAY DEFECT-BRACHYDACTYLY SYNDROME

Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism.

ULNAR/FIBULA RAY DEFECT-BRACHYDACTYLY SYNDROME Is also known as morava-mehes syndrome

• Short stature
• Growth delay
• Brachydactyly
• Frontal bossing
• Talipes equinovarus

SOURCES: OMIM ORPHANET MESH MENDELIAN

High match FG SYNDROME 2; FGS2

Although the phenotypic spectrum and severity of FG syndrome is wide, the cardinal features include congenital hypotonia, delayed speech development, relative macrocephaly, dysmorphic facies, and anal anomalies or severe constipation (Unger et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 (OMIM ).

• Intellectual disability
• Seizures
• Generalized hypotonia
• Hypertelorism
• Failure to thrive

SOURCES: OMIM MENDELIAN

High match AICA-RIBOSIDURIA

AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness.

AICA-RIBOSIDURIA Is also known as aica-ribosuria due to atic deficiency|5-amino-4-imidazole carboxamide ribosiduria|atic deficiency

• Intellectual disability
• Seizures
• Generalized hypotonia
• Muscular hypotonia
• Low-set ears

SOURCES: OMIM MESH ORPHANET MENDELIAN

High match MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14

• Intellectual disability
• Scoliosis
• High palate
• Macrocephaly
• Frontal bossing

SOURCES: OMIM MESH MENDELIAN

High match MACROCEPHALY-DEVELOPMENTAL DELAY SYNDROME

Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly.

• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia
• High palate

SOURCES: ORPHANET OMIM MENDELIAN

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

• Global developmental delay
• Short stature
• Generalized hypotonia
• Cryptorchidism
• Low-set ears

SOURCES: OMIM MENDELIAN

High match OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8; OPTB8

• Failure to thrive
• Strabismus
• Anemia
• Feeding difficulties
• Hepatomegaly

SOURCES: OMIM MENDELIAN

High match ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM

The Maroteaux type of mesomelic sysplasia is an autosomal recessive disorder characterized by severe dwarfism (height below 120 cm) with shortening of the middle and distal segments of the limbs. This condition is usually diagnosed at birth and becomes more obvious in the first 2 years of life. X-rays show short broad fingers, square flat feet, and shortening of the long bones (particularly the forearms). The radius is bowed; the ulna is shorter than the radius, and its distal end is occasionally hypoplastic. The skull is dolichocephalic and a shortness of the trunk, with decreased vertebral height and narrowing of the lumbar interpedicular distances, is consistently observed. Facial appearance and intelligence are normal (summary by Faivre et al., 2000).

ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM Is also known as st. helena dysplasia

• Brachydactyly
• Frontal bossing
• Short nose
• Severe short stature
• Prominent forehead

SOURCES: OMIM MENDELIAN