Hypertelorism, and Small hand

X-linked intellectual disability, Stocco Dos Santos type is characterised by severe intellectual deficit with hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections. Aggressive behaviour and frequent epileptic seizures may also be present. The syndrome has been described in four boys from the same family. Transmission is X-linked and is caused by mutations in the KIAA1202 gene, localised to the Xp11.2 region.

X-LINKED INTELLECTUAL DISABILITY, STOCCO DOS SANTOS TYPE Is also known as mental retardation, x-linked, stocco dos santos type

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

SOURCES: ORPHANET OMIM MESH MENDELIAN

Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.

MONOSOMY 5P Is also known as cri du chat syndrome|deletion 5p

• Short stature
• Microcephaly
• Scoliosis
• Hypertelorism
• Muscular hypotonia

SOURCES: ORPHANET MENDELIAN

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

HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS Is also known as aqueductal stenosis

• Intellectual disability
• Seizures
• Microcephaly
• Hypertelorism
• Nystagmus

SOURCES: OMIM MENDELIAN

Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.

MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME Is also known as syndromic moyamoya disease|moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism|chromosome xq28 deletion syndrome, 3.4-kb

• Seizures
• Global developmental delay
• Short stature
• Hypertelorism
• Abnormal facial shape

SOURCES: ORPHANET OMIM MENDELIAN

Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS; see this term), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities.

• Intellectual disability
• Seizures
• Global developmental delay
• Hypertelorism
• Cleft palate

SOURCES: ORPHANET MENDELIAN

Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS; see this term), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities.

• Intellectual disability
• Seizures
• Hearing impairment
• Hypertelorism
• Cleft palate

SOURCES: ORPHANET MENDELIAN

Among the Yakuts, an Asian population isolate that is located in the northeastern part of Siberia, Maksimova et al. (2010) ascertained a short stature syndrome involving autosomal recessive postnatal growth failure, small hands and feet, loss of visual acuity with abnormalities of color vision, abnormal nuclear shape in neutrophil granulocytes (Pelger-Huet anomaly; see {169400}), and normal intelligence.

SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME Is also known as soph syndrome

• Short stature
• Generalized hypotonia
• Growth delay
• Hypertelorism
• Strabismus

SOURCES: OMIM ORPHANET MENDELIAN

An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet.

AUTOSOMAL RECESSIVE KENNY-CAFFEY SYNDROME Is also known as kcs|kenny-caffey syndrome, autosomal recessive

• Seizures
• Global developmental delay
• Microcephaly
• Growth delay
• Hypertelorism

SOURCES: ORPHANET MESH OMIM MENDELIAN

Familial lambdoid synostosis is a rare, genetic cranial malformation characterized by unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge, compensatory contralateral parietal and frontal bossing, displacement of one ear, lateral deviation of jaw and compensatory deformation of cervical spine while bilateral cases usually manifest with flat and widened occiput, displacement of both ears and frequent occurrence of raised intracranial pressure.

• Intellectual disability
• Hypertelorism
• Muscular hypotonia
• Spasticity
• Low-set ears

SOURCES: OMIM ORPHANET MENDELIAN