Delayed speech and language development, and Syndactyly

Diseases related with Delayed speech and language development and Syndactyly

In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Syndactyly that can help you solving undiagnosed cases.


Top matches:

Low match CHROMOSOME Xp11.23-p11.22 DUPLICATION SYNDROME

recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females.

CHROMOSOME Xp11.23-p11.22 DUPLICATION SYNDROME Is also known as ;trisomy xp11.22-p11.23

Related symptoms:

  • Intellectual disability
  • Seizures
  • Pica
  • Delayed speech and language development
  • Intellectual disability, severe


SOURCES: SCTID DOID ORPHANET MESH UMLS MONDO GARD OMIM

More info about CHROMOSOME Xp11.23-p11.22 DUPLICATION SYNDROME

Low match BRACHYDACTYLY, TYPE A1, D; BDA1D

Related symptoms:

  • Autosomal dominant inheritance
  • Delayed speech and language development
  • Brachydactyly
  • Clinodactyly of the 5th finger
  • Syndactyly


SOURCES: DOID UMLS MONDO OMIM

More info about BRACHYDACTYLY, TYPE A1, D; BDA1D

Low match JOUBERT SYNDROME 20; JBTS20

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Respiratory insufficiency
  • Syndactyly
  • Congenital onset


SOURCES: DOID OMIM UMLS MONDO

More info about JOUBERT SYNDROME 20; JBTS20

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Other less relevant matches:

Low match VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2; VCRL2

VCRL2 is an autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal, and distal mild limb defects. Additional features are variable (summary by Shi et al., 2017).For a discussion of genetic heterogeneity of VCRL, see VCRL1 (OMIM ).

VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2; VCRL2 Is also known as congenital nad deficiency disorder 2, kynureninase deficiency, complete

Related symptoms:

  • Microcephaly
  • Delayed speech and language development
  • Patent ductus arteriosus
  • Syndactyly
  • Narrow chest


SOURCES: OMIM

More info about VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2; VCRL2

Low match 5Q14.3 MICRODELETION SYNDROME

The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.

5Q14.3 MICRODELETION SYNDROME Is also known as del(5)(q14.3); monosomy 5q14.3

Related symptoms:

  • Seizures
  • Strabismus
  • Muscular hypotonia
  • Feeding difficulties
  • Delayed speech and language development


SOURCES: ORPHANET

More info about 5Q14.3 MICRODELETION SYNDROME

Low match YOU-HOOVER-FONG SYNDROME; YHFS

YOU-HOOVER-FONG SYNDROME; YHFS Is also known as ;you-hoover-fong syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: UMLS OMIM ORPHANET MONDO

More info about YOU-HOOVER-FONG SYNDROME; YHFS

Low match PERIVENTRICULAR NODULAR HETEROTOPIA 7; PVNH7

Periventricular nodular heterotopia-7 is a neurologic disorder characterized by abnormal neuronal migration during brain development resulting in delayed psychomotor development and intellectual disability; some patients may develop seizures. Other features include cleft palate and 2-3 toe syndactyly (summary by Broix et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of periventricular heterotopia, see {300049}.

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: OMIM UMLS MONDO

More info about PERIVENTRICULAR NODULAR HETEROTOPIA 7; PVNH7

Low match CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA; CHDED

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MONDO UMLS

More info about CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA; CHDED

Low match SWEENEY-COX SYNDROME; SWCOS

Sweeney-Cox syndrome is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears (Kim et al., 2017).

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Ptosis


SOURCES: OMIM

More info about SWEENEY-COX SYNDROME; SWCOS

Low match DEVELOPMENTAL AND SPEECH DELAY DUE TO SOX5 DEFICIENCY

Developmental and speech delay due to SOX5 deficiency is a rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Strabismus
  • Motor delay


SOURCES: ORPHANET

More info about DEVELOPMENTAL AND SPEECH DELAY DUE TO SOX5 DEFICIENCY

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Syndactyly

Symptoms // Phenotype % cases
Global developmental delay Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Feeding difficulties Uncommon - Between 30% and 50% cases
Toe syndactyly Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Delayed speech and language development and Syndactyly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Strabismus Congenital onset Absent speech Cleft palate Scoliosis Hearing impairment Microcephaly Autosomal dominant inheritance

Rare Symptoms - Less than 30% cases


Aggressive behavior Gastroesophageal reflux Myopia Narrow chest Talipes 2-3 toe syndactyly Muscular hypotonia Pectus carinatum Hypoplasia of the corpus callosum Short nose Stereotypy Autosomal recessive inheritance Nystagmus Abnormal facial shape Micrognathia Motor delay Cryptorchidism Optic atrophy Clinodactyly Brachydactyly Intellectual disability, severe Abnormal heart morphology Prominent forehead Mitral regurgitation Dental crowding Lumbar hyperlordosis Prominent nasal bridge Sparse hair Narrow palate Abnormal cardiac septum morphology Attention deficit hyperactivity disorder Dry skin Microdontia Ectodermal dysplasia Exotropia Cupped ear Sparse scalp hair Vertebral fusion Abnormality of cardiovascular system morphology Ventricular septal defect Depressed nasal bridge Self-injurious behavior Hyperplasia of the maxilla Cortical dysplasia Thoracic kyphoscoliosis Heterotopia Bifid uvula Polymicrogyria Muscular hypotonia of the trunk Butterfly vertebrae Abnormality of brain morphology Broad thumb Widely spaced teeth Thin skin Asplenia Overfolded helix Bilateral talipes equinovarus Long fingers Generalized hirsutism Prominent metopic ridge Eyelid coloboma Wide anterior fontanel Broad neck Choanal atresia Underdeveloped nasal alae Hirsutism Coloboma Anal atresia Craniosynostosis Short columella Cutaneous syndactyly Cerebellar hypoplasia Velopharyngeal insufficiency Talipes equinovarus Ptosis Hypertelorism Short digit Median cleft palate Upper eyelid coloboma Frontal bossing Premature loss of primary teeth Fragile nails Abnormality of the genital system Anxiety Atrioventricular canal defect Proptosis Spasticity Flexion contracture Intellectual disability, borderline Retinopathy Polydactyly Respiratory insufficiency Short distal phalanx of the 2nd finger Short proximal phalanx of thumb Aplasia/Hypoplasia of the middle phalanx of the 2nd finger Poor motor coordination Short proximal phalanx of finger Short 2nd finger Short distal phalanx of the thumb Short middle phalanx of the 5th finger Arachnodactyly Clinodactyly of the 5th finger EEG with centrotemporal focal spike waves Shyness Postaxial polydactyly EEG abnormality Pica Intellectual disability, mild Obesity Pes cavus Pes planus Autism Poor speech Overweight X-linked dominant inheritance Absence seizures Hoarse voice Nasal speech Precocious puberty Increased body weight Renal cyst Apraxia Ankyloglossia Pectus excavatum Optic nerve hypoplasia Agenesis of cerebellar vermis Abnormality of nervous system morphology Frontal cortical atrophy Ataxia Visual impairment Kyphoscoliosis Thick eyebrow Joint laxity Abnormality of movement Chorea Blue sclerae Cortical visual impairment Rotary nystagmus Open mouth Autistic behavior Oculomotor apraxia Hypoplastic left heart Molar tooth sign on MRI Abnormal retinal morphology Self-mutilation Patent ductus arteriosus Renal hypoplasia Rhizomelia Restrictive deficit on pulmonary function testing Broad forehead Anteverted nares Ventriculomegaly Upslanted palpebral fissure High forehead Short philtrum Deeply set eye Exaggerated median tongue furrow



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