Global developmental delay, and Interphalangeal joint contracture of finger

Diseases related with Global developmental delay and Interphalangeal joint contracture of finger

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

Top matches:

SLC35A3-CDG is a form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21).

AUTISM SPECTRUM DISORDER-EPILEPSY-ARTHROGRYPOSIS SYNDROME Is also known as slc35a3-cdg

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTISM SPECTRUM DISORDER-EPILEPSY-ARTHROGRYPOSIS SYNDROME

Congenital fibrosis of the extraocular muscles (CFEOM) encompasses several different inherited strabismus syndromes characterized by congenital restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. If all affected members of a family have classic CFEOM with bilateral involvement and inability to raise the eyes above midline, the phenotype is classified as CFEOM1 (OMIM ). CFEOM2 (OMIM ) shows autosomal recessive inheritance. CFEOM3 is characterized by autosomal dominant inheritance of a more variable phenotype than classic CFEOM1. Individuals with CFEOM3 may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis (reviews by Yamada et al., 2004 and Heidary et al., 2008).Yamada et al. (2003) concluded that CFEOM3 is a relatively rare form of CFEOM. Genetic Heterogeneity of CFEOM3The CFEOM3 phenotype is genetically heterogeneous; see also CFEOM3B (OMIM ), caused by mutation in the KIF21A gene on chromosome 12q12, and CFEOM3C (OMIM ), which maps to chromosome 13q.

FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT; CFEOM3A Is also known as feom3 locus

Related symptoms:

  • Global developmental delay
  • Strabismus
  • Ptosis
  • Flexion contracture
  • Peripheral neuropathy


SOURCES: OMIM MESH MENDELIAN

More info about FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT; CFEOM3A

Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria.

HYPERTRYPTOPHANEMIA Is also known as hypertryptophanemia, familial

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERTRYPTOPHANEMIA

Other less relevant matches:

Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.

CAMPTODACTYLY-TALL STATURE-SCOLIOSIS-HEARING LOSS SYNDROME Is also known as catshl syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CAMPTODACTYLY-TALL STATURE-SCOLIOSIS-HEARING LOSS SYNDROME

Low match MASA SYNDROME

MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.

MASA SYNDROME Is also known as spastic paraplegia 1, x-linked|thumb, congenital clasped, with mental retardation|gareis-mason syndrome|intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome|clasped thumb and mental retardation|spg1|mental retardation, aphasia, shufflin

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MASA SYNDROME

Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, macrocephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet.

BOWEN-CONRADI SYNDROME Is also known as bowen syndrome, hutterite type|bowen hutterite syndrome, formerly

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BOWEN-CONRADI SYNDROME

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: MESH OMIM MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 2; COFS2

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

EMARDD is a congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis. More variable features include cleft palate and feeding difficulties. There is variable severity: some patients become ventilator-dependent, never achieve walking, and die in childhood, whereas others have a longer and more favorable course (summary by Logan et al., 2011 and Boyden et al., 2012).

EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA SYNDROME Is also known as emardd

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA SYNDROME

Low match WEAVER SYNDROME

Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.

WEAVER SYNDROME Is also known as camptodactyly-overgrowth-unusual facies syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about WEAVER SYNDROME

Top 5 symptoms//phenotypes associated to Global developmental delay and Interphalangeal joint contracture of finger

Symptoms // Phenotype % cases
Camptodactyly of finger Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and Interphalangeal joint contracture of finger. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Flexion contracture Growth delay Strabismus Talipes equinovarus Generalized hypotonia Cataract Hypertelorism Failure to thrive Micrognathia

Rare Symptoms - Less than 30% cases

Joint contracture of the hand High myopia Tall stature Short stature Spasticity Cleft palate Pes cavus Downslanted palpebral fissures Macrocephaly Long fingers Myopia Clinodactyly of the 5th finger Behavioral abnormality Neonatal hypotonia Low-set, posteriorly rotated ears Ventriculomegaly Sensorineural hearing impairment High palate Hearing impairment Microphthalmia Muscular hypotonia Rocker bottom foot Intellectual disability, mild Arachnodactyly Intellectual disability, moderate Autistic behavior Severe global developmental delay Small for gestational age Joint stiffness Feeding difficulties in infancy Abnormality of cardiovascular system morphology Intrauterine growth retardation Cryptorchidism Agenesis of corpus callosum Facial palsy Camptodactyly Hand clenching Adducted thumb Pectus excavatum Bullet-shaped distal phalanx of the hallux Central apnea Small face Abnormal oral frenulum morphology Toe syndactyly Abnormality iris morphology Single transverse palmar crease Short philtrum Deeply set eye Abnormal joint morphology Abnormal lung lobation Severe intrauterine growth retardation Severe postnatal growth retardation Micropenis Kyphoscoliosis Sparse hair Coloboma Congenital cataract Convex nasal ridge Cutaneous photosensitivity Scrotal hypoplasia Large beaked nose Short neck Muscle weakness Hyporeflexia Feeding difficulties Broad thumb Inguinal hernia Macrotia Retrognathia Broad forehead Finger syndactyly Joint hyperflexibility Round face Hypoplasia of penis Fine hair Abnormality of the metaphysis Hoarse voice Hypertonia Abnormality of the fingernails Accelerated skeletal maturation Sandal gap Deep philtrum Redundant skin Large hands Hypoplastic toenails Broad foot Thin nail Deep-set nails Long philtrum Increased endomysial connective tissue Motor delay Muscular dystrophy Dysphagia Respiratory distress Myopathy Encephalopathy Areflexia Finger clinodactyly Respiratory failure Gastroesophageal reflux Respiratory tract infection Paralysis Generalized muscle weakness Respiratory arrest Decreased fetal movement Recurrent pneumonia Severe muscular hypotonia Poor head control Nasal speech Restrictive ventilatory defect Bulbar palsy Difficulty running Increased connective tissue Diaphragmatic paralysis Short chin Hemiplegia/hemiparesis Sloping forehead Levator palpebrae superioris atrophy External ophthalmoplegia Wrist flexion contracture Corneal scarring Congenital fibrosis of extraocular muscles Restrictive external ophthalmoplegia Compensatory chin elevation Superior rectus atrophy Nonprogressive restrictive external ophthalmoplegia Exotropia Sensory exotropia Visual impairment Fever Depressivity Arthralgia Pes planus Aggressive behavior Joint laxity Situs inversus totalis Amblyopia Emotional lability Hammertoe Intellectual disability, severe Autism Hip dislocation Arthrogryposis multiplex congenita Hip dysplasia Absence seizures Microretrognathia Knee dislocation Specific learning disability Atypical absence seizures Ptosis Peripheral neuropathy Scarring Ophthalmoplegia Abnormality of movement Peripheral axonal neuropathy Esotropia Skin rash Limited elbow extension Prominent nose Aphasia Hyperlordosis Spastic paraplegia Paraplegia Lumbar hyperlordosis Muscle stiffness Paraparesis Spastic paraparesis Progressive spasticity Babinski sign Hyperactive deep tendon reflexes Down-sloping shoulders Shuffling gait Aqueductal stenosis Severe hydrocephalus Clinodactyly Abnormality of the foot Oral cleft Abnormality of the nervous system Kyphosis Overweight Ectopia lentis Generalized joint laxity Mood swings Stuttering Hypersexuality Tryptophanuria Head-banging Craniosynostosis Bilateral sensorineural hearing impairment Camptodactyly of toe Hydrocephalus Osteochondroma Increased vertebral height Abnormality of lower limb joint Broad femoral metaphyses Cognitive impairment Delayed speech and language development Hyperreflexia Gait disturbance Abnormally low-pitched voice


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