Delayed speech and language development, and Short neck

Diseases related with Delayed speech and language development and Short neck

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


Top matches:

High match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13

Related symptoms:

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


SOURCES: OMIM UMLS MONDO MESH

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13

High match PITUITARY HORMONE DEFICIENCY, COMBINED, 3; CPHD3

Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.

PITUITARY HORMONE DEFICIENCY, COMBINED, 3; CPHD3 Is also known as pituitary hormone deficiency, combined, with rigid cervical spine, deafness, sensorineural, with pituitary dwarfism;non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: MESH OMIM MONDO ORPHANET UMLS

More info about PITUITARY HORMONE DEFICIENCY, COMBINED, 3; CPHD3

High match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42

Autosomal recessive mental retardation-42 is a neurodevelopmental disorder characterized by severely delayed psychomotor development. Additional features are variable and include nonspecific dysmorphic facial features, hypotonia, structural brain abnormalities, and cortical visual impairment (summary by Bosch et al., 2015). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42 Is also known as glycosylphosphatidylinositol biosynthesis defect 9;gpibd9

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: OMIM UMLS MONDO

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42

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Other less relevant matches:

High match DESANTO-SHINAWI SYNDROME; DESSH

DeSanto-Shinawi syndrome is a rare neurodevelopmental disorder characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes. Most patients also have gastrointestinal and mild ocular abnormalities, as well as behavioral problems (summary by DeSanto et al., 2015).

DESANTO-SHINAWI SYNDROME; DESSH Is also known as developmental delay, behavioral abnormalities, facial dysmorphism, and ocular abnormalities;

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET UMLS

More info about DESANTO-SHINAWI SYNDROME; DESSH

High match CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; CLIFAHDD

CLIFAHDD is a congenital disorder characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay. All reported cases have occurred de novo (summary by Chong et al., 2015).

Related symptoms:

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


SOURCES: OMIM UMLS

More info about CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; CLIFAHDD

High match RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES; RPSKA

RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES; RPSKA Is also known as metaphyseal chondrodysplasia with retinitis pigmentosa;

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Micrognathia


SOURCES: MONDO MESH OMIM ORPHANET UMLS

More info about RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES; RPSKA

High match MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN

X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures.

MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN Is also known as mental retardation, x-linked, syndromic 30;mrxs30;x-linked intellectual disability-nail dystrophy-seizures syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Depressed nasal bridge
  • Macrocephaly
  • Short neck


SOURCES: ORPHANET UMLS OMIM MONDO DOID

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN

High match TEMPLE-BARAITSER SYNDROME; TMBTS

Temple-Baraitser syndrome is a rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients.

TEMPLE-BARAITSER SYNDROME; TMBTS Is also known as mental retardation, severe, and absent nails of hallux and pollex;severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; tmbts

Related symptoms:

  • Autosomal recessive inheritance
  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay


SOURCES: SCTID EFO MESH MONDO GARD OMIM ORPHANET UMLS

More info about TEMPLE-BARAITSER SYNDROME; TMBTS

High match SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2

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:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: UMLS MONDO OMIM

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

High match SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE; SEMDFA

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE; SEMDFA Is also known as spondyloepimetaphyseal dysplasia, progressive, with short stature, facial dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis;

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET UMLS OMIM MONDO

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE; SEMDFA

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

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Short stature Downturned corners of mouth Autosomal dominant inheritance Depressed nasal bridge Hearing impairment Downslanted palpebral fissures Malar flattening Microcephaly Wide nasal bridge Hypoplasia of the corpus callosum Cerebral atrophy Micrognathia Motor delay Full cheeks Midface retrusion Poor speech Low-set ears Wide mouth Macrotia Small nail Absent speech Increased body weight Upslanted palpebral fissure Abnormal facial shape Infantile onset Strabismus Neonatal hypotonia Epicanthus Synophrys Wide intermamillary distance

Rare Symptoms - Less than 30% cases


Macrocephaly Tapered finger Prominent forehead Ptosis Pica Broad neck Broad hallux Short palm Feeding difficulties Aggressive behavior Posteriorly rotated ears Abnormality of the pinna Deeply set eye Hirsutism Pes planus Short metacarpal Short distal phalanx of finger Scoliosis Craniosynostosis Thick vermilion border Microtia Adducted thumb Short columella Osteopenia Long philtrum Sensorineural hearing impairment Micropenis Carious teeth Growth delay Intellectual disability, severe Hyperactivity Hyperlordosis Skeletal dysplasia Severe short stature Brachycephaly Low anterior hairline Failure to thrive Open mouth Short philtrum Cleft upper lip Anonychia Global brain atrophy Muscular hypotonia Developmental regression Anteverted nares Broad thumb Myopathic facies Intellectual disability, progressive Short thumb Wide nose Regional abnormality of skin Prominent nose Pituitary hypothyroidism Almond-shaped palpebral fissure Hypointensity of cerebral white matter on MRI Nail dysplasia Congenital blindness Metaphyseal chondrodysplasia Edema X-linked recessive inheritance Round face Nail dystrophy Thin vermilion border Dry skin Short foot Leukemia Smooth philtrum Abnormal hair whorl Low posterior hairline Hypopigmentation of the skin Generalized hirsutism Prominent supraorbital ridges Abnormality of the cerebral white matter Acute myeloid leukemia Cleft lip Myeloid leukemia Echolalia Broad face Spotty hypopigmentation Poor eye contact Small thenar eminence Low hanging columella Delayed epiphyseal ossification Platyspondyly Autistic behavior Coxa vara Metaphyseal dysplasia Tented upper lip vermilion Short femoral neck Femoral bowing Overlapping toe Slender long bone Thoracolumbar scoliosis Short nose Beaking of vertebral bodies Lumbar scoliosis Spondyloepimetaphyseal dysplasia Small epiphyses Narrow pelvis bone Short fourth metatarsal Proximal femoral epiphysiolysis Skull asymmetry Distal femoral bowing Delayed skeletal maturation Ureterocele High anterior hairline Cryptorchidism Thick nasal alae Underdeveloped nasal alae Frontal upsweep of hair Pseudoepiphyses Flat forehead Pseudoepiphysis of the thumb Absent nail of hallux Hypoplastic thumbnail Cleft palate Microphthalmia Overfolded helix Pectus excavatum Hypospadias Narrow mouth Obesity Blepharophimosis Flat face Microcornea Microdontia Short palpebral fissure Scrotal hypoplasia Horseshoe kidney Nyctalopia Febrile seizures Abnormality of earlobe Spastic paraplegia Highly arched eyebrow Paraplegia Retinal dystrophy Delayed myelination Brain atrophy Cerebellar vermis hypoplasia Cortical visual impairment Abnormal electroretinogram Abnormal hand morphology Muscular hypotonia of the trunk Jaundice Myopia Constipation Coarse facial features Thin upper lip vermilion Kyphosis Abnormality of the skeletal system Anxiety Attention deficit hyperactivity disorder Joint hypermobility Growth hormone deficiency Broad forehead Panhypopituitarism Gonadotropin deficiency Anterior pituitary hypoplasia Lumbar kyphosis Pituitary dwarfism Prolactin deficiency Abnormal anterior horn cell morphology Thoracolumbar kyphoscoliosis Hypothalamic luteinizing hormone-releasing hormone deficiency Nystagmus Spasticity Cyanosis Visual impairment Hyperreflexia Tremor Hypertonia Abnormality of the dentition Thoracic kyphosis Cerebellar hypoplasia Agenesis of corpus callosum Hypopituitarism Hyperextensible skin Myopathy Bulbous nose Hypotelorism Progressive microcephaly Hip contracture Overweight Breathing dysregulation Enlarged naris Prominent nasolabial fold Pursed lips Slender finger Truncal obesity Brachydactyly Frontal bossing Neonatal respiratory distress Ventricular septal defect Blindness Rod-cone dystrophy Oxycephaly Intellectual disability, moderate Postnatal microcephaly Adrenocorticotropic hormone deficiency Retinal degeneration Renal cyst Congenital contracture Bruxism Thick eyebrow Respiratory insufficiency Astigmatism Sleep disturbance Agitation Inverted nipples Abnormality of the cerebellar vermis Horizontal eyebrow Flexion contracture Unilateral cleft lip Talipes equinovarus Cerebellar atrophy Knee flexion contracture Mild microcephaly Inguinal hernia Respiratory distress Hernia Congenital onset Gastroesophageal reflux Umbilical hernia Camptodactyly Abnormality of the foot Elbow flexion contracture Thoracic platyspondyly



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