Global developmental delay, and Short neck

Diseases related with Global developmental delay and Short neck

In the following list you will find some of the most common rare diseases related to Global developmental delay and Short neck that can help you solving undiagnosed cases.

Top matches:

Noonan syndrome is an autosomal dominant disorder characterized by short stature, craniofacial dysmorphism, short and/or webbed neck, cardiac abnormalities, cryptorchidism, and coagulation defects (summary by Yamamoto et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 9; NS9

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about NOONAN SYNDROME 5; NS5

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME 2; ZLS2

Other less relevant matches:

Cerebellofaciodental syndrome is an autosomal recessive neurodevelopmental disorder characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia (summary by Borck et al., 2015).

CEREBELLAR-FACIAL-DENTAL SYNDROME Is also known as cerebellar-facial-dental syndrome|cerebellofaciodental syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CEREBELLAR-FACIAL-DENTAL SYNDROME

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13

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 ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA; LIS7

MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1; MSSGM1 Is also known as mssgm

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1; MSSGM1

Mucolipidosis type III gamma (ML 3 gamma) is a very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis type II and mucolipidosis type III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency.

MUCOLIPIDOSIS TYPE III GAMMA Is also known as ml iii gamma|mucolipidosis type 3 gamma|mucolipidosis iii, iranian variant form|ml 3 gamma|mucolipidosis iiic|ml iiic|mucolipidosis iii, complementation group c|mucolipidosis iii, variant form

Related symptoms:

  • Global developmental delay
  • Short stature
  • Scoliosis
  • Pain
  • Flexion contracture


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MUCOLIPIDOSIS TYPE III GAMMA

Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by Niihori et al., 2006). In a phenotypic comparison of BRAF (OMIM )-positive and KRAS-positive individuals with CFC, Niihori et al. (2006) observed that patients with KRAS mutations did not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma, that were present in patients with BRAF mutation.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2

2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.

2Q24 MICRODELETION SYNDROME Is also known as monosomy 2q24|del(2)(q24)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET MESH MENDELIAN

More info about 2Q24 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Global developmental delay and Short neck

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and Short neck. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Downslanted palpebral fissures Microcephaly Sparse eyebrow Coarse facial features Low-set ears Scoliosis Pulmonic stenosis Ptosis

Rare Symptoms - Less than 30% cases

Sparse hair Synophrys Hirsutism Low-set, posteriorly rotated ears Hyperkeratosis Hypoplasia of the corpus callosum Cerebellar hypoplasia Sparse and thin eyebrow Fine hair Wide nasal bridge Growth delay Motor delay Neonatal hypotonia Short philtrum Myopia Pain Kyphosis Hand clenching Atrial septal defect Webbed neck Thick vermilion border Curly hair Macrocephaly Generalized hypotonia Opacification of the corneal stroma Aortic valve stenosis Cardiomegaly Genu valgum Aortic regurgitation Pectus carinatum Joint stiffness Hyperlordosis Pes planus Arthralgia Intellectual disability, mild Abnormality of the skeletal system Abnormality of the hand Long fingers Abnormality iris morphology Flexion contracture Wide nose Agyria Osteoporosis Hypoglycemia Joint laxity Delayed puberty Central apnea Amenorrhea Delayed thelarche Primary amenorrhea Insulin resistance Absence seizures Ketoacidosis Maternal diabetes Hyperinsulinemic hypoglycemia Dorsocervical fat pad Interphalangeal joint contracture of finger Microphthalmia Spondyloepiphyseal dysplasia Absent eyebrow Broad forehead Peripheral axonal neuropathy Ichthyosis Mitral valve prolapse Hemangioma Bilateral ptosis Arthropathy Proptosis Neuropathic arthropathy Failure to thrive Coloboma Cleft palate Cataract Abnormal oral frenulum morphology Behavioral abnormality High forehead Camptodactyly of finger Autistic behavior High palate Dysostosis multiplex Flared iliac wings Abnormality of the rib cage Flat capital femoral epiphysis Increased serum iduronate sulfatase activity Increased serum beta-hexosaminidase Arachnodactyly Centrally nucleated skeletal muscle fibers Peripheral neuropathy Small face Cardiomyopathy Toe syndactyly Severe global developmental delay Small for gestational age Posteriorly rotated ears Anteverted nares Severe muscular hypotonia Lissencephaly Anonychia Small nail Depressed nasal ridge Hypertrichosis Long eyelashes Gingival overgrowth Deep philtrum Widow's peak Macroglossia Bifid nasal tip Broad eyebrow Prominent nasal septum Ventriculomegaly Poor speech Tapered finger Dental malocclusion Underdeveloped nasal alae Thick eyebrow Stridor Arrhythmia Cryptorchidism Abnormal cardiac septum morphology Coarctation of aorta Mild short stature Hyperkeratosis pilaris Epicanthus Prominent forehead Joint hypermobility Mandibular prognathia Hypertrophic cardiomyopathy Wide mouth Abnormality of the sternum Hearing impairment Sensorineural hearing impairment Upslanted palpebral fissure Laryngomalacia Slender long bone Lymphedema Abnormality of the cerebellar vermis Truncal obesity Slender finger Overweight Mild microcephaly Bruxism Unilateral cleft lip Horizontal eyebrow Progressive microcephaly Micrognathia Myopathy Areflexia Agenesis of corpus callosum Respiratory failure Arthrogryposis multiplex congenita Full cheeks Low anterior hairline Postnatal microcephaly Taurodontia Brachycephaly Hypoplasia of the pons Laryngeal stridor Macrodontia of permanent maxillary central incisor Delayed speech and language development Intellectual disability, severe Obesity Hyperactivity Cleft lip Hypotelorism Developmental regression Abnormality of the cerebral white matter Smooth philtrum Cleft upper lip Downturned corners of mouth Round face Febrile seizures Bullet-shaped distal phalanx of the hallux


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