Delayed speech and language development, and Wide intermamillary distance

Diseases related with Delayed speech and language development and Wide intermamillary distance

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


Top matches:

High match ALAZAMI-YUAN SYNDROME; ALYUS

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: UMLS OMIM MONDO

More info about ALAZAMI-YUAN SYNDROME; ALYUS

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

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Other less relevant matches:

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 SCHUURS-HOEIJMAKERS SYNDROME; SHMS

Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed.

SCHUURS-HOEIJMAKERS SYNDROME; SHMS Is also known as mental retardation, autosomal dominant 17;mrd17;

Related symptoms:

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


SOURCES: OMIM UMLS MONDO NCIT DOID ORPHANET GARD

More info about SCHUURS-HOEIJMAKERS SYNDROME; SHMS

High match NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS

NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS Is also known as noonan-neurofibromatosis syndrome, neurofibromatosis with noonan phenotype

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Short stature
  • Pica
  • Scoliosis


SOURCES: OMIM ORPHANET

More info about NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS

Medium match 6Q TERMINAL DELETION SYNDROME

6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET

More info about 6Q TERMINAL DELETION SYNDROME

Medium match MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE; MRXSSR

X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.

MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE; MRXSSR Is also known as snyder-robinson mental retardation syndrome;srs;snyder-robinson syndrome

Related symptoms:

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


SOURCES: SCTID MESH MONDO UMLS ORPHANET OMIM GARD DOID

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE; MRXSSR

Medium match PIERPONT SYNDROME; PRPTS

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; PRPTS 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:

  • Autosomal dominant inheritance
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MONDO UMLS MESH

More info about PIERPONT SYNDROME; PRPTS

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Wide intermamillary distance

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

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

Common Symptoms - More than 50% cases


Short neck

Uncommon Symptoms - Between 30% and 50% cases


Cryptorchidism

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Short stature Absent speech Downslanted palpebral fissures Pica Autosomal dominant inheritance Strabismus Ptosis Synophrys Microcephaly Nystagmus Depressed nasal bridge Malar flattening Scoliosis Midface retrusion Low anterior hairline Downturned corners of mouth Broad neck Epicanthus Upslanted palpebral fissure Macrocephaly Macrotia Pes planus Wide mouth Hearing impairment Anteverted nares Smooth philtrum Broad hallux Posteriorly rotated ears Highly arched eyebrow Abnormality of the pinna Narrow mouth Long philtrum Low-set ears Long eyelashes Low posterior hairline Cerebellar hypoplasia Thin upper lip vermilion Feeding difficulties

Rare Symptoms - Less than 30% cases


Hypoplasia of the corpus callosum Pectus excavatum Microphthalmia Muscular hypotonia High myopia Slender finger Broad philtrum Broad face Cleft palate Full cheeks Micrognathia Thick vermilion border Short palm Microcornea Brachycephaly Wide nasal bridge High anterior hairline Short palpebral fissure Bulbous nose Dysarthria Myopia Gait disturbance Broad thumb Tapered finger Wide nose Infantile muscular hypotonia Telecanthus Hypospadias X-linked recessive inheritance Failure to thrive Joint laxity Autosomal recessive inheritance High palate Neonatal hypotonia Prominent nasal bridge Poor speech Prominent nose Dental crowding Short columella Unilateral cryptorchidism Webbed neck Hirsutism Micropenis High, narrow palate Short foot Leukemia Deeply set eye Aggressive behavior Hyperkeratosis Myoclonus Hallux valgus Mandibular prognathia Kyphoscoliosis Intellectual disability, moderate Short philtrum Gait ataxia Prominent metopic ridge Prominent forehead Clinodactyly Obesity Intellectual disability, mild Abnormality of neuronal migration Heterotopia Gynecomastia Low-set, posteriorly rotated ears Abnormality of the cerebral cortex Periventricular gray matter heterotopia Hypsarrhythmia Hypermetropia Colpocephaly Aplasia/Hypoplasia of the ribs Plagiocephaly Polymicrogyria Talipes calcaneovalgus Cognitive impairment Abnormality of the cerebral white matter Dolichocephaly Talipes equinovarus Dysmetria Osteoporosis Phimosis Disproportionate tall stature Clonus Multiple lipomas Long palm Asymmetry of the ears Hypertonia Short nose High forehead Muscular hypotonia of the trunk Everted lower lip vermilion Widely spaced teeth Short finger Narrow palpebral fissure Flat occiput Broad palm Narrow palm Broad foot Pendular nystagmus Deep palmar crease Deep plantar creases Long upper lip Large fleshy ears Wide nasal ridge Unilateral narrow palpebral fissure Prominent median palatal raphe Abnormal peripheral nervous system morphology Hypoplastic areola Focal motor seizures Small earlobe Camptodactyly Tall stature Pectus carinatum Abnormality of movement Facial asymmetry Unsteady gait Arachnodactyly Recurrent fractures Bifid uvula Postural instability Spontaneous abortion Generalized myoclonic seizures Thick lower lip vermilion Intellectual disability, profound Long hallux Hyperpigmentation of the skin Narrow face Nasal speech Broad-based gait Sparse eyebrow Decreased muscle mass Long fingers Superior pectus carinatum Epileptic spasms Slender build Hyperextensibility of the finger joints Pectus excavatum of inferior sternum Overfolded helix Inguinal freckling Cerebral atrophy Myeloid leukemia Echolalia Spotty hypopigmentation Abnormal hair whorl Almond-shaped palpebral fissure Hypointensity of cerebral white matter on MRI Regional abnormality of skin Infantile onset Intellectual disability, severe Short distal phalanx of finger Increased body weight Open mouth Small nail Short thumb Intellectual disability, progressive Adducted thumb Myopathic facies Global brain atrophy Anonychia Poor eye contact Acute myeloid leukemia Prominent supraorbital ridges Thick nasal alae Narrow chest Pallor Astigmatism Optic disc pallor Amblyopia Hypoplasia of the pons Mild microcephaly Congenital microcephaly Broad finger Hyperactivity Thick eyebrow Generalized hirsutism Single transverse palmar crease Underdeveloped nasal alae Curly eyelashes Edema Nail dystrophy Thin vermilion border Dry skin Nail dysplasia Hypopigmentation of the skin Low hanging columella Small thenar eminence Plexiform neurofibroma Cubitus valgus Muscle weakness Milia Nevus Tics Atrial septal defect Oxycephaly Pulmonic stenosis Specific learning disability Relative macrocephaly Cafe-au-lait spot Diastema Fibroma Freckling Neurofibromas Acute lymphoblastic leukemia Secundum atrial septal defect Lisch nodules Prominent nasolabial fold Axillary freckling Optic nerve glioma Cavum septum pellucidum Volvulus Frontal upsweep of hair Carious teeth Pseudoepiphyses Flat forehead Pseudoepiphysis of the thumb Absent nail of hallux Hypoplastic thumbnail Motor delay Osteopenia Blepharophimosis Microtia Flat face Speech apraxia Microdontia Scrotal hypoplasia Ureterocele Ventriculomegaly Constipation Abnormality of the genital system Coloboma Abnormal cardiac septum morphology Intestinal malrotation Single umbilical artery Small scrotum



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Myopia and Tapered finger, related diseases and genetic alterations Intellectual disability, severe and Cerebellar hypoplasia, related diseases and genetic alterations Fever and Lower limb muscle weakness, related diseases and genetic alterations Brachydactyly and Palmoplantar keratoderma, related diseases and genetic alterations Short stature and Nephrotic syndrome, related diseases and genetic alterations Seizures and Hypertonia, related diseases and genetic alterations

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