Delayed speech and language development, and Single transverse palmar crease

Diseases related with Delayed speech and language development and Single transverse palmar crease

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


Top matches:

Medium match NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER; NDAGSCW

NDAGSCW is a neurodevelopmental disorder characterized by severely delayed psychomotor development apparent from infancy. Affected individuals have delayed and difficulty walking, intellectual disability, absent speech, and variable additional features, including hip dysplasia, tapering fingers, and seizures. Brain imaging shows decreased cortical white matter, often with decreased cerebellar white matter, thin corpus callosum, and thin brainstem (summary by Lamers et al., 2017).

Related symptoms:

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


SOURCES: OMIM

More info about NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER; NDAGSCW

Medium 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

Medium match MENTAL RETARDATION, X-LINKED 98; MRX98

X-linked mental retardation-98 is a neurodevelopmental disorder characterized by delayed psychomotor development, poor speech, behavioral abnormalities, poor overall growth, dysmorphic facial features, and often early-onset seizures. Some carrier females are unaffected, whereas other females with mutations are affected; males tend to be more severely affected than females. It is believed that the phenotypic variability and disease manifestations in female carriers results from skewed X-inactivation or cellular mosaicism (summary by de Lange et al., 2016).

MENTAL RETARDATION, X-LINKED 98; MRX98 Is also known as ;

Related symptoms:

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


SOURCES: UMLS OMIM SCTID MONDO ORPHANET

More info about MENTAL RETARDATION, X-LINKED 98; MRX98

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Other less relevant matches:

Medium match NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES; NDMSBA

NDMSBA is an autosomal recessive neurodevelopmental disorder characterized by infantile onset of progressive microcephaly and spasticity and severe global developmental delay resulting in profound mental retardation and severely impaired or absent motor function. More variable features include seizures and optic atrophy. Brain imaging may show myelinating abnormalities and white matter lesions consistent with a leukoencephalopathy, as well as structural anomalies, including thin corpus callosum, gyral abnormalities, and cerebral or cerebellar atrophy. Some patients die in early childhood (summary by Falik Zaccai et al., 2017 and Hall et al., 2017).

Related symptoms:

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


SOURCES: OMIM UMLS

More info about NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES; NDMSBA

Medium match MEIER-GORLIN SYNDROME 6; MGORS6

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Hearing impairment
  • Micrognathia
  • Strabismus


SOURCES: UMLS MONDO OMIM

More info about MEIER-GORLIN SYNDROME 6; MGORS6

Medium match ALLAN-HERNDON-DUDLEY SYNDROME; AHDS

Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.

ALLAN-HERNDON-DUDLEY SYNDROME; AHDS Is also known as allan-herndon syndrome, monocarboxylate transporter 8 deficiency, triiodothyronine resistance, t3 resistance, mental retardation, x-linked, with hypotonia, mental retardation and muscular atrophy;ahds; mct8 deficiency; monocarboxylate transporter 8 deficiency; x-linked intellectual disability-hypotonia syndrome

Related symptoms:

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


SOURCES: UMLS SCTID ORPHANET MONDO GARD NCIT OMIM DOID MESH

More info about ALLAN-HERNDON-DUDLEY SYNDROME; AHDS

Medium match PROLIDASE DEFICIENCY

Prolidase deficiency is a rare autosomal recessive multisystem disorder associated with massive imidodipeptiduria and lack of or reduced prolidase activity in erythrocytes, leukocytes, or cultured fibroblasts. The disorder is clinically heterogeneous and severity varies widely. Features include chronic, slowly healing ulcerations, mainly on the legs and feet. The ulcers are often preceded by other dermatologic manifestations that may occur anywhere and include erythematous papular eruptions, telangiectasias with pruritus and photosensitivity, impetigo-like eruptions, pruritic eczematous lesions, and necrotic papules. Mild to severe mental retardation is often a feature, and recurrent respiratory tract infections, sometimes fatal, are common. Facial dysmorphism may include low hairline and hirsutism, saddle nose, ocular hypertelorism, micrognathia, a high-arched palate, mandibular protrusion, and exophthalmos. Clinical manifestations are usually detectable after birth or in early childhood, but late-onset cases have been reported (summary by Lupi et al., 2008).

PROLIDASE DEFICIENCY Is also known as ;hyperimidodipeptiduria

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism


SOURCES: GARD MONDO ORPHANET MESH OMIM NCIT SCTID

More info about PROLIDASE DEFICIENCY

Medium match COFFIN-SIRIS SYNDROME 6; CSS6

Coffin-Siris syndrome-6 is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies. Some patients have fifth digit clinodactyly with small nails. Other congenital anomalies and seizures may be present. This description is based on reports of 7 unrelated patients (Shang et al., 2015; Van Paemel et al., 2017; Bramswig et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM DOID MONDO UMLS

More info about COFFIN-SIRIS SYNDROME 6; CSS6

Medium match ADAMS-OLIVER SYNDROME 2; AOS2

Adams-Oliver syndrome-2 is an autosomal recessive multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects, in association with variable involvement of the brain, eyes, and cardiovascular systems (summary by Shaheen et al., 2011).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

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


SOURCES: UMLS OMIM MONDO

More info about ADAMS-OLIVER SYNDROME 2; AOS2

Medium match MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35

Related symptoms:

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


SOURCES: DOID OMIM UMLS MONDO

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Single transverse palmar crease

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Delayed speech and language development and Single transverse palmar crease. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Feeding difficulties

Uncommon Symptoms - Between 30% and 50% cases


Seizures Strabismus Spasticity Short nose Pica Hypoplasia of the corpus callosum Absent speech Micrognathia Gastroesophageal reflux Motor delay Neonatal hypotonia Hearing impairment Failure to thrive Growth delay Depressed nasal bridge Posteriorly rotated ears Intrauterine growth retardation Clinodactyly Ventriculomegaly Nystagmus Visual impairment Low anterior hairline Hernia Optic atrophy Underdeveloped nasal alae Hirsutism Flexion contracture Thin upper lip vermilion Hyperactivity Hypothyroidism Tapered finger Edema Protruding ear Gait ataxia Downslanted palpebral fissures Short stature Autosomal recessive inheritance Epicanthus Scoliosis Hypertelorism Muscular hypotonia of the trunk Delayed myelination Hip dysplasia Cryptorchidism Stereotypy Drooling

Rare Symptoms - Less than 30% cases


Polyhydramnios Cerebellar hypoplasia Central hypothyroidism Cleft palate Syndactyly Finger clinodactyly Autosomal dominant inheritance Periventricular leukomalacia Progressive microcephaly Smooth philtrum Short middle phalanx of finger Frontal bossing Ataxia Recurrent infections Prominent forehead Hypoplasia of the zygomatic bone Bilateral single transverse palmar creases Lymphedema Abnormality of the nervous system Proptosis Pectus excavatum Tics Ptosis Inguinal hernia Anteverted nares Retrognathia Hypsarrhythmia Microretrognathia Depressed nasal ridge Short distal phalanx of finger Short foot Thick vermilion border Small nail Conductive hearing impairment Recurrent respiratory infections Midface retrusion Short finger Anemia Open mouth Poor speech Constipation Cerebral cortical atrophy Congenital onset Clinodactyly of the 5th finger Brachydactyly Dental crowding Wide intermamillary distance Prominent nasal bridge Aggressive behavior Tetraparesis Long philtrum Mild microcephaly Hypermetropia Abnormality of the pinna Upslanted palpebral fissure Dystonia Talipes equinovarus Macrotia Narrow mouth Severe global developmental delay Narrow forehead Cerebellar cyst High myopia Generalized hirsutism Abnormal lung morphology Inflammatory abnormality of the skin Abnormality of the fingernails Reduced bone mineral density Systemic lupus erythematosus Osteomyelitis Psoriasiform dermatitis Abnormality of the immune system Cerebral palsy Abnormality of the hip bone Aplasia/Hypoplasia of the skin Elevated erythrocyte sedimentation rate Dermal atrophy Wide anterior fontanel Febrile seizures Prolonged neonatal jaundice Petechiae Decreased testicular size Myelitis Chronic lung disease Abnormal cardiac septum morphology White forelock Abnormality of the middle ear Poliosis Toe syndactyly Facial hirsutism Skin ulcer Abnormality of retinal pigmentation Sinusitis Genu valgum Hepatomegaly Splenomegaly Intellectual disability, mild Abnormality of metabolism/homeostasis Thrombocytopenia Obesity Narrow palpebral fissure Erythema Cutaneous syndactyly Hyperkeratosis Hepatosplenomegaly Skin rash Pruritus Carious teeth Cutis marmorata Papule Dry skin Arachnodactyly Palmoplantar keratoderma Eczema Convex nasal ridge Epiphyseal dysplasia Low posterior hairline Recurrent pneumonia Cutaneous photosensitivity Thin skin Hepatitis Asthma Dolichocephaly Crusting erythematous dermatitis Diffuse telangiectasia Small toe Falciform retinal fold Mania Aplasia cutis congenita Corpus callosum atrophy Abdominal wall defect Deep philtrum Abnormality of the hand Infantile spasms Arachnoid cyst High anterior hairline Congenital cataract Diaphragmatic eventration Testicular torsion Abnormal heart morphology Retinal nonattachment Low-set ears Nevus Macrocephaly Hydrocephalus Retrocerebellar cyst Hypertonia Retinal fold Microphthalmia Alopecia Dilatation Depressivity Aplasia cutis congenita of scalp Adactyly Cutis marmorata telangiectatica congenita Small finger Agenesis of corpus callosum Attention deficit hyperactivity disorder Recurrent cystitis Camptodactyly Atrial septal defect Mandibular prognathia Blue sclerae Coarse facial features High forehead Kyphoscoliosis Wide mouth Oligohydramnios Anxiety Low-set, posteriorly rotated ears Gliosis Osteoporosis Wide nasal bridge Rod-cone dystrophy Hypospadias Behavioral abnormality Delayed eruption of teeth High, narrow palate Small hand Thick lower lip vermilion Sparse scalp hair Retinal detachment Polymicrogyria Wormian bones Myopia Bulbous nose Plagiocephaly Cerebral atrophy Pes planus Milia Kyphosis Rigidity Hyperhidrosis Polydactyly Pneumonia Encephalopathy Arrhythmia Cerebellar atrophy Apnea Respiratory insufficiency Protruding tongue Poor eye contact Shawl scrotum Long nose Abnormality of the musculature Abnormal pyramidal sign Pectus carinatum Coarse hair Hypomimic face Severe short stature Delayed skeletal maturation Progressive leukoencephalopathy Contractures of the large joints Exaggerated startle response Central apnea Progressive spasticity Postaxial polydactyly Poor suck Leukoencephalopathy Spastic tetraparesis Hypertrichosis Intellectual disability, profound Abnormality of extrapyramidal motor function Tented upper lip vermilion Absence seizures Respiratory tract infection Bruxism Highly arched eyebrow Thick eyebrow Narrow chest Synophrys High palate Happy demeanor Facial hypotonia Long eyelashes Overlapping toe Optic nerve hypoplasia Cerebellar vermis hypoplasia Difficulty walking Pes cavus Abnormality of the skeletal system Prominent nose Broad hallux Postnatal microcephaly Nephrotic syndrome Generalized seizures Status epilepticus Esotropia Round face Thin vermilion border Autistic behavior Short philtrum Short columella Postnatal growth retardation EEG abnormality Autism X-linked recessive inheritance Curly eyelashes Unilateral cryptorchidism Umbilical hernia Hyperlordosis Underfolded superior helices Choreoathetosis Type I diabetes mellitus CNS hypomyelination Leukodystrophy Intellectual disability, progressive Narrow face Inability to walk Athetosis Myopathic facies X-linked dominant inheritance Spastic tetraplegia Urinary incontinence Generalized muscle weakness Tetraplegia Cerebral calcification Poor head control Aphasia Paraplegia Delayed CNS myelination Stahl ear Abnormal conjugate eye movement Prominent antihelix Increased thyroid-stimulating hormone level Rotary nystagmus Hypoplasia of the musculature Abnormality of the neck Generalized amyotrophy Macroorchidism Central hypotonia Hyperactive deep tendon reflexes Biparietal narrowing Hallux valgus Bowel incontinence Increased serum lactate Long face Microtia Emphysema Entropion Patellar aplasia Hypoplastic labia majora Stenosis of the external auditory canal Tracheomalacia Cortical gyral simplification Laryngomalacia Subglottic stenosis Sandal gap Short phalanx of finger Lumbar hyperlordosis Growth hormone deficiency Delayed puberty Small for gestational age Bronchomalacia Tracheobronchomalacia Abnormality of the foot Feeding difficulties in infancy Abnormality of movement Spastic paraplegia Irritability Clonus Joint stiffness Camptodactyly of finger Babinski sign Nasogastric tube feeding Hyporeflexia Intellectual disability, severe Gait disturbance Skeletal muscle atrophy Dysarthria Hyperreflexia Muscular hypotonia Spondyloepiphyseal dysplasia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Full cheeks, related diseases and genetic alterations Hyperreflexia and Cerebellar vermis hypoplasia, related diseases and genetic alterations

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