Global developmental delay, and Short palm

Diseases related with Global developmental delay and Short palm

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Cryptorchidism
  • Ventriculomegaly


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 103; MRX103

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

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE KENNY-CAFFEY SYNDROME

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011).For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (OMIM ).

CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2 Is also known as cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

More info about CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2

Other less relevant matches:

Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.

6Q16 DELETION SYNDROME Is also known as del(6)(q16)|prader-willi-like syndrome due to deletion 6q16|monosomy 6q16

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 6Q16 DELETION SYNDROME

Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria (see these terms). Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.

METAPHYSEAL CHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA Is also known as spondyloenchondromatosis with d-2-hydroxyglutaric aciduria|metaphyseal enchondrodysplasia with 2-hydroxyglutaric aciduria|metaphyseal chondromatosis with d-2-hydroxyglutaric aciduria

Related symptoms:

  • Global developmental delay
  • Short stature
  • Scoliosis
  • Strabismus
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about METAPHYSEAL CHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA

Early infantile epileptic encephalopathy-2 is an X-linked dominant severe neurologic disorder characterized by onset of seizures in the first months of life and severe global developmental delay resulting in mental retardation and poor motor control. Other features include lack of speech development, subtle dysmorphic facial features, sleep disturbances, gastrointestinal problems, and stereotypic hand movements. There is some phenotypic overlap with Rett syndrome (OMIM ), but EIEE2 is considered to be a distinct entity (summary by Fehr et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

CDKL5-RELATED EPILEPTIC ENCEPHALOPATHY Is also known as issx2|cdkl5 deficiency disorder|infantile spasm syndrome, x-linked 2

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CDKL5-RELATED EPILEPTIC ENCEPHALOPATHY

Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015).For a discussion of genetic heterogeneity of congenital symmetric circumferential skin creases, see CSCSC1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM; PMRED

High match PIERPONT SYNDROME

Pierpont syndrome is a rare subcutaneous tissue disorder characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. Over time, fat pads may become less prominent and disappear.

PIERPONT SYNDROME Is also known as plantar lipomatosis, unusual facies, and developmental delay|plantar lipomatosis-facial dysmorphism-developmental delay syndrome|plantar lipomatosis-unusual facies-developmental delay syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PIERPONT SYNDROME

Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA-SHORT LIMB-ABNORMAL CALCIFICATION SYNDROME Is also known as smed, short limb-hand type|smed, type ii|smed-sl|smed, short limb-abnormal calcification type|smed-sl/ac|spondylometaepiphyseal dysplasia, short limb-abnormal calcification type

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA-SHORT LIMB-ABNORMAL CALCIFICATION SYNDROME

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

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Tapered finger Uncommon - Between 30% and 50% cases
Strabismus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Hypertelorism Short foot Depressed nasal bridge Scoliosis Intellectual disability Absent speech Delayed speech and language development Muscular hypotonia Hearing impairment High palate Epicanthus Nystagmus EEG abnormality Hypoplasia of the corpus callosum Full cheeks Abnormal facial shape Small hand Midface retrusion Micropenis Anteverted nares Cryptorchidism Macrocephaly

Rare Symptoms - Less than 30% cases

Malar flattening Myoclonus Hyporeflexia Abnormality of the neck Cerebellar atrophy Pectus excavatum Intellectual disability, severe Thoracic scoliosis Micrognathia Ventriculomegaly Cognitive impairment Deeply set eye Short nose Inability to walk Coarse facial features Wide mouth Wide nasal bridge Severe global developmental delay Joint laxity Posteriorly rotated ears Upslanted palpebral fissure Bulbous nose Carious teeth Macrotia Low-set ears Wide intermamillary distance Brachycephaly Microphthalmia Abnormality of the pinna Short neck Failure to thrive Feeding difficulties Microcornea High forehead Muscular hypotonia of the trunk Smooth philtrum Telecanthus Thin vermilion border Hypertonia Broad jaw Subglottic stenosis Umbilical hernia Hydrocele testis Overfolded helix Downslanted palpebral fissures Hypospadias Narrow mouth Osteopenia Pes planus Low-set, posteriorly rotated ears Blepharophimosis Microtia Flat face Microdontia Short palpebral fissure Scrotal hypoplasia Broad neck Atonic seizures Ureterocele Hernia Areflexia Everted lower lip vermilion Abnormality of the cerebral white matter Macroglossia Broad thumb Aortic valve stenosis Horizontal nystagmus Bicuspid aortic valve Mutism CNS hypomyelination Wide nose Deep palmar crease Narrow palpebral fissure Spondyloepimetaphyseal dysplasia Disproportionate short-limb short stature Short long bone Metatarsus adductus Bowing of the legs Flared metaphysis Thoracic hypoplasia Restrictive ventilatory defect Hypoplasia of the odontoid process Syringomyelia Epiphyseal stippling Bell-shaped thorax Spinal cord compression Flared iliac wings Elbow flexion contracture Anterior rib cupping Hip subluxation Broad phalanx Broad metacarpals Atlantoaxial instability Long fibula Calcification of falx cerebri C1-C2 subluxation Posterior rib cupping Small foramen magnum Tracheal calcification Abnormal calcification of the carpal bones Triangular shaped distal phalanges of the hand Knee flexion contracture Recurrent pneumonia Widely spaced teeth Wide nasal ridge Infantile muscular hypotonia Flat occiput Multiple lipomas Broad palm Broad foot Pendular nystagmus High anterior hairline Broad face Broad philtrum Deep plantar creases Long upper lip Large fleshy ears Small scrotum Short ribs Abnormal peripheral nervous system morphology Prominent median palatal raphe Hypoplastic areola Unilateral narrow palpebral fissure Frontal bossing Long philtrum Proptosis Platyspondyly Narrow chest Micromelia Short metacarpal Limb undergrowth Short phalanx of finger Motor delay Focal-onset seizure Cleft palate Intention tremor Ataxia Sensorineural hearing impairment Dysarthria Tremor Kyphosis Cerebellar hypoplasia Gait ataxia Abnormal pyramidal sign Dysmetria Hirsutism Brain atrophy Heterotopia Stenosis of the medullary cavity of the long bones Truncal ataxia Intellectual disability, progressive Lissencephaly Dysdiadochokinesis Global brain atrophy Cortical dysplasia Thoracic kyphosis Atrophy of the dentate nucleus Aplasia of the inferior half of the cerebellar vermis Myopia Abnormality of cardiovascular system morphology Calvarial osteosclerosis Thin long bone diaphyses Clinodactyly of the 5th finger Proportionate short stature Polymicrogyria Growth delay Anemia Intrauterine growth retardation Delayed skeletal maturation Postnatal growth retardation Hypocalcemia Recurrent bacterial infections Delayed cranial suture closure Slender long bone Thin ribs Hypoparathyroidism Congenital hypoparathyroidism Severe postnatal growth retardation Hypomagnesemia Decreased skull ossification Tetany Delayed closure of the anterior fontanelle Generalized tonic seizures Long clavicles Hypocalcemic seizures Hypocalcemic tetany Birth length less than 3rd percentile Thin clavicles Cortical thickening of long bone diaphyses Obesity Autism EEG with generalized slow activity Stereotypy Sleep disturbance Generalized myoclonic seizures Delayed myelination Epileptic encephalopathy Sloping forehead Apraxia Intellectual disability, profound Hypsarrhythmia Thick lower lip vermilion Tetraparesis Postnatal microcephaly Cerebral visual impairment Broad forehead Progressive microcephaly Spastic tetraparesis Loss of consciousness Infantile spasms Poor eye contact Hyperventilation Bruxism Developmental stagnation Mood swings Infantile encephalopathy Multifocal seizures Thoracolumbar kyphoscoliosis Thick vermilion border Developmental regression Autistic behavior Rhizomelia Prominent nasal bridge Round face Microretrognathia Polyphagia Narrow nose Misalignment of teeth Dilatation Alopecia Genu valgum Aciduria Waddling gait Irregular vertebral endplates Kyphoscoliosis Thoracolumbar scoliosis Cavum septum pellucidum Abnormality of dental eruption D-2-hydroxyglutaric aciduria Blindness Intellectual disability, mild Cerebral atrophy Encephalopathy Constipation Prominent forehead Respiratory failure Gastroesophageal reflux Progressive calcification of costochondral cartilage


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