Global developmental delay, and Small nail

Diseases related with Global developmental delay and Small nail

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME 2; ZLS2

IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by Jansen et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP

CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME Is also known as developmental delay-short stature-dysmorphic features-sparse hair syndrome|loucks-innes syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME

Other less relevant matches:

Coffin-Siris syndrome is a rare congenital disorder characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit. Other features may also be observed, including congenital heart defects, hypoplasia of the corpus callosum, and poor overall growth with short stature and microcephaly (summary by Wieczorek et al., 2013). Patients with SMARCE1 mutations have a wide spectrum of manifestations, including severe to moderate intellectual disability and heart defects (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 5; CSS5

Medium match ANAUXETIC DYSPLASIA

Anauxetic dysplasia is a spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia, and mild intellectual disability. Vertebrae are ovoid with concave dorsal surfaces in the lumbar region and show delayed bone maturation. Femoral heads and necks are hypoplastic, as are the iliac bodies. Long bones show irregular mineralization of the metaphyses. The first and fifth metacarpals are short and wide with small, late-ossifying epiphyses and bullet-shaped middle phalanges (summary by Barraza-Garcia et al., 2017).For a discussion of genetic heterogeneity of anauxetic dysplasia, see ANXD1 (OMIM ).

ANAUXETIC DYSPLASIA Is also known as spondyloepimetaphyseal dysplasia, menger type|spondyloepimetaphyseal dysplasia, anauxetic type

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ANAUXETIC DYSPLASIA

Brachydactyly-short stature-retinitis pigmentosa syndrome is a rare, genetic, congenital limb malformation syndrome characterized by mild to severe short stature, brachydactyly, and retinal degeneration (usually retinitis pigmentosa), associated with variable intellectual disability, develomental delays, and craniofacial anomalies.

BRACHYDACTYLY-SHORT STATURE-RETINITIS PIGMENTOSA SYNDROME Is also known as metaphyseal chondrodysplasia with retinitis pigmentosa

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Micrognathia
  • Low-set ears


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BRACHYDACTYLY-SHORT STATURE-RETINITIS PIGMENTOSA SYNDROME

Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with ARID1A mutations have a wide spectrum of manifestations, from severe intellectual disability and serious internal complications that could result in early death to mild intellectual disability (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).The chromosome 1p36.11 duplication syndrome, in which the ARID1A gene is duplicated, is characterized by impaired intellectual development, microcephaly, dysmorphic facial features, and hand and foot anomalies.

COFFIN-SIRIS SYNDROME 2; CSS2 Is also known as mrd14|mental retardation, autosomal dominant 14

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 2; CSS2

Hyperphosphatasia with mental retardation syndrome-2 is an autosomal recessive disorder characterized by moderately to severely delayed psychomotor development, facial dysmorphism, brachytelephalangy, and increased serum alkaline phosphatase (hyperphosphatasia). Some patients may have additional features, such as cardiac septal defects or seizures (summary by Krawitz et al., 2012). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.For a discussion of genetic heterogeneity of hyperphosphatasia with mental retardation syndrome, see HPMRS1 (OMIM ).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2; HPMRS2 Is also known as glycosylphosphatidylinositol biosynthesis defect 6|gpibd6

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2; HPMRS2

Medium 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

Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder (summary by Faghri et al., 2008).Sabinas brittle hair syndrome (OMIM ) is another form of nonphotosensitive TTD.For a discussion of genetic heterogeneity of trichothiodystrophy, see {601675}.

TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE; TTD4 Is also known as trichothiodystrophy-neurocutaneous syndrome|pollitt syndrome|abhs|trichothiodystrophy, nonphotosensitive 1|bids syndrome|ttdn1|amish brittle hair brain syndrome|hair-brain syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE; TTD4

Top 5 symptoms//phenotypes associated to Global developmental delay and Small nail

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Delayed speech and language development Brachydactyly Anteverted nares Feeding difficulties Sparse hair Microcephaly Hypoplastic toenails Downslanted palpebral fissures Depressed nasal bridge Micrognathia Hypertelorism Wide mouth Atrial septal defect Seizures Growth delay Macrocephaly Ventricular septal defect Macrotia Short neck Thick eyebrow Macroglossia Coarse facial features Long eyelashes

Rare Symptoms - Less than 30% cases

Short distal phalanx of finger Epicanthus Craniosynostosis Dandy-Walker malformation Sparse eyelashes Upslanted palpebral fissure Retrognathia Kyphosis Ptosis Recurrent infections Wide nose Thick vermilion border Thick lower lip vermilion Sparse scalp hair Low anterior hairline Sandal gap Abnormal corpus callosum morphology Scoliosis Wide nasal bridge Delayed skeletal maturation Short nose Shortening of all distal phalanges of the fingers Agenesis of corpus callosum Abnormality of cardiovascular system morphology Cognitive impairment Anonychia Hyperlordosis Deep philtrum Hypertrichosis Broad forehead Underdeveloped nasal alae Thin upper lip vermilion Constipation Low-set, posteriorly rotated ears Large hands Pulmonic stenosis Anal atresia Broad nasal tip Vesicoureteral reflux Concave nail Aganglionic megacolon Generalized-onset seizure Hypergonadotropic hypogonadism Plagiocephaly Tented upper lip vermilion Elevated alkaline phosphatase Broad hallux Microcornea Long palpebral fissure Trichorrhexis nodosa Anal stenosis Abnormal cardiac septum morphology Absent fifth fingernail Ventriculomegaly Brittle hair Retinal degeneration Renal cyst Short metacarpal Horseshoe kidney Congenital blindness Metaphyseal chondrodysplasia Visual impairment Motor delay Macular degeneration Cleft palate High forehead Abnormality of the pinna Poor speech Highly arched eyebrow Severe muscular hypotonia Aplasia/Hypoplasia of the distal phalanges of the hand Prominent interphalangeal joints Absent fifth toenail Partial agenesis of the corpus callosum Ichthyosis Peripheral pulmonary artery stenosis Tall stature Joint hyperflexibility Round face Abnormally low-pitched voice Hypoplasia of penis Nyctalopia Abnormality of the metaphysis Broad thumb Hoarse voice Camptodactyly of finger Hypoplasia of teeth Corneal neovascularization Deep-set nails Thin nail Woolly hair Broad foot Abnormality of the fingernails Accelerated skeletal maturation Finger syndactyly Ataxia Anterior plagiocephaly Talipes equinovarus Perineal fistula Redundant skin Cerebral cortical atrophy Keratoconjunctivitis sicca Hypogonadism Microphthalmia Cryptorchidism Spasticity Hypertonia Joint stiffness Long philtrum Inguinal hernia Pes cavus Optic atrophy Decreased fertility Cataract Nystagmus Feeding difficulties in infancy Fine hair Limb undergrowth Intellectual disability, moderate Proteinuria Attention deficit hyperactivity disorder Hypermetropia Small hand Short foot Broad-based gait Obsessive-compulsive behavior Abnormality of the dentition Prominent forehead Abnormality of the kidney Anxiety Hematuria Ectodermal dysplasia Cerebellar vermis hypoplasia Trigonocephaly Sparse eyebrow Nephritis Scaphocephaly Tubulointerstitial nephritis Autistic behavior Gastroesophageal reflux Intrauterine growth retardation Bifid nasal tip Hearing impairment Sensorineural hearing impairment Synophrys Joint hypermobility Hirsutism Depressed nasal ridge Gingival overgrowth Widow's peak Broad eyebrow Autism Prominent nasal septum Strabismus Pain Myopia Fever Vomiting Behavioral abnormality Posteriorly rotated ears Hyperactivity Posterior fossa cyst Hypoplasia of the corpus callosum Rod-cone dystrophy Delayed ossification of carpal bones Short femoral neck Metaphyseal dysplasia Thoracolumbar scoliosis Ovoid vertebral bodies Broad ribs Hypoplastic ilia Spondyloepimetaphyseal dysplasia Shield chest Hypoplasia of the capital femoral epiphysis Cone-shaped epiphysis Thoracolumbar kyphoscoliosis Increased vertebral height Hypoplasia of the femoral head Hypoplastic iliac body Cervical spine instability Frontal bossing Blindness Malar flattening Metaphyseal irregularity Cubitus valgus Absent speech Midface retrusion Abnormal heart morphology Cerebellar hypoplasia Short philtrum Arachnodactyly Slender finger Dystrophic toenail Thick nasal alae Flexion contracture Severe short stature Relative macrocephaly Kyphoscoliosis Skeletal dysplasia Joint laxity Hypodontia Nail dysplasia Lumbar hyperlordosis Elbow flexion contracture Coxa valga Coxa vara Tiger tail banding


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