NALCN gene related symptoms and diseases

Alternate names

FREEMAN-SHELDON SYNDROME Is also known as craniocarpotarsal dystrophy, craniocarpotarsal dysplasia, distal arthrogryposis type 2a, whistling face syndrome

Description

Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.

Most common symptoms of FREEMAN-SHELDON SYNDROME

• Short stature
• Hearing impairment
• Scoliosis
• Growth delay
• Hypertelorism

SOURCES: ORPHANET

Alternate names

DIGITOTALAR DYSMORPHISM Is also known as ulnar drift, hereditary, da1, distal arthrogryposis type 1, da1a

Description

Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis (see this term).

Most common symptoms of DIGITOTALAR DYSMORPHISM

• Flexion contracture
• Talipes equinovarus
• Narrow mouth
• Camptodactyly
• Joint stiffness

SOURCES: ORPHANET OMIM

Alternate names

SHELDON-HALL SYNDROME Is also known as arthrogryposis multiplex congenita, distal, type ii, with craniofacial abnormalities, sheldon-hall syndrome, shs, distal arthrogryposis type 2b, fssv, arthrogryposis multiplex congenita, distal, type 2b, freeman-sheldon syndrome variant

Description

Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.

Most common symptoms of SHELDON-HALL SYNDROME

• Short stature
• Hearing impairment
• Scoliosis
• Hypertelorism
• Micrognathia

SOURCES: OMIM ORPHANET

Alternate names

ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5 Is also known as daiib, arthrogryposis, distal, type iib, arthrogryposis with oculomotor limitation and electroretinal abnormalities, oculomelic amyoplasia

Description

Distal arthrogryposis type 5 is distinguished from other forms of DA by the presence of ocular abnormalities, typically ptosis, ophthalmoplegia, and/or strabismus, in addition to contractures of the skeletal muscles. Some cases have been reported to have pulmonary hypertension as a result of restrictive lung disease (summary by Bamshad et al., 2009).There are 2 syndromes with features overlapping those of DA5 that are also caused by heterozygous mutation in PIEZO2: distal arthrogryposis type 3 (DA3, or Gordon syndrome; {114300}) and Marden-Walker syndrome (MWKS ), which are distinguished by the presence of cleft palate and mental retardation, respectively. McMillin et al. (2014) suggested that the 3 disorders might represent variable expressivity of the same condition.For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1A (OMIM ). Genetic Heterogeneity of Distal Arthrogryposis 5A subtype of DA5 due to mutation in the ECEL1 gene (OMIM ) on chromosome 2q36 has been designated DA5D (OMIM ). See NOMENCLATURE.

Most common symptoms of ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5

• Intellectual disability
• Short stature
• Hearing impairment
• Scoliosis
• Micrognathia

SOURCES: OMIM

Alternate names

HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1 Is also known as ihprf

Description

Infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) is a severe autosomal recessive neurologic disorder with onset at birth or in early infancy. Affected individuals show very poor, if any, normal cognitive development. Some patients are never learn to sit or walk independently (summary by Al-Sayed et al., 2013). Genetic Heterogeneity of Infantile Hypotonia with Psychomotor Retardation and Characteristic FaciesSee also IHPRF2 (OMIM ), caused by mutation in the UNC80 gene (OMIM ) on chromosome 2q34; and IHPRF3 (OMIM ), caused by mutation in the TBCK gene (OMIM ) on chromosome 4q24.

Most common symptoms of HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1

• Seizures
• Global developmental delay
• Generalized hypotonia
• Microcephaly
• Scoliosis

SOURCES: OMIM

Description

CLIFAHDD is a congenital disorder characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay. All reported cases have occurred de novo (summary by Chong et al., 2015).

Most common symptoms of CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; CLIFAHDD

• Seizures
• Global developmental delay
• Generalized hypotonia
• Scoliosis
• Micrognathia

SOURCES: OMIM

Alternate names

HYPOTONIA-SPEECH IMPAIRMENT-SEVERE COGNITIVE DELAY SYNDROME Is also known as infantile hypotonia-psychomotor retardation-characteristic facies syndrome, ihprf syndrome

Description

Hypotonia-speech impairment-severe cognitive delay syndrome is a rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip).

SOURCES: ORPHANET