Global developmental delay, and High, narrow palate

Diseases related with Global developmental delay and High, narrow palate

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

Top matches:

Intellectual disability, Birk-Barel type is a rare, genetic, syndromic intellectual disability characterized by congenital central hypotonia, developmental delay, moderate to severe intellectual disability and subtle dysmorphic features which evolve over time (dolichocephaly, myopathic facies, ptosis, short and broad philtrum, tented upper lip vermillion, palatal anomalies, mild micro- and/or retrognathia). Patients present reduced facial movements, lethargy, weak cry, transient neonatal hypoglycemia, severe feeding difficulties and failure to thrive. Dysphagia, particularly of solid food, asthenic body build, joint contractures and scoliosis are additional features.

INTELLECTUAL DISABILITY, BIRK-BAREL TYPE Is also known as intellectual disability-hypotonia-facial dysmorphism syndrome|birk-barel mental retardation dysmorphism syndrome|mental retardation with hypotonia and facial dysmorphism

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY, BIRK-BAREL TYPE

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE; NDHSAL

Other less relevant matches:

Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term).

NEONATAL ADRENOLEUKODYSTROPHY Is also known as nald

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEONATAL ADRENOLEUKODYSTROPHY

Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.

BARBER-SAY SYNDROME Is also known as bss|hypertrichosis-atrophic skin-ectropion-macrostomia syndrome|hypertrichosis, atrophic skin, ectropion, and macrostomia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BARBER-SAY SYNDROME

Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by Windpassinger et al., 2017).

AL KAISSI SYNDROME; ALKAS Is also known as growth retardation, spine malformation, dysmorphic facies, and developmental delay

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AL KAISSI SYNDROME; ALKAS

Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia (see this term) with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3.

PONTOCEREBELLAR HYPOPLASIA TYPE 3 Is also known as pch without dyskinesia|cerebellar atrophy with progressive microcephaly|clam|pch with optic atrophy|pch3

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 3

OROFACIODIGITAL SYNDROME XVII; OFD17 Is also known as ofds xvii|oral-facial-digital syndrome, type xvii

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Low-set ears
  • High palate


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME XVII; OFD17

High match SIALURIA

Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.

SIALURIA Is also known as sialuria, french type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIALURIA

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 MENDELIAN

More info about 6Q TERMINAL DELETION SYNDROME

Top 5 symptoms//phenotypes associated to Global developmental delay and High, narrow palate

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Global developmental delay and High, narrow palate. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Epicanthus Hypertelorism Hearing impairment Short stature Prominent forehead Macrocephaly Wide nasal bridge Long philtrum Decreased body weight Clinodactyly Macrotia Telecanthus Depressed nasal bridge Visual impairment Ptosis Strabismus Nystagmus Scoliosis Delayed speech and language development Dolichocephaly Hypoplasia of the corpus callosum Anteverted nares Short neck Thick eyebrow Micrognathia

Rare Symptoms - Less than 30% cases

Hypoplastic nipples Abnormality of the pinna EEG abnormality Triangular face Hypospadias Talipes equinovarus Failure to thrive Inverted nipples Wide mouth Abnormality of the cerebral white matter Bulbous nose Dyskinesia Intellectual disability, severe Intellectual disability, mild Low anterior hairline Sparse eyebrow Mandibular prognathia Absent speech Growth delay Dental malocclusion Hyperreflexia Encephalopathy Frontal bossing Underdeveloped nasal alae Abnormality of metabolism/homeostasis Low-set, posteriorly rotated ears Abnormality of neuronal migration Developmental regression Generalized hirsutism Optic atrophy Hypsarrhythmia Cerebral atrophy Narrow forehead Smooth philtrum Synophrys Small hand Thin upper lip vermilion Muscular hypotonia Cleft palate Flexion contracture Poor speech Feeding difficulties Brachycephaly Hyperactivity Neonatal hypotonia Highly arched eyebrow Broad nasal tip Retrognathia Prominent metopic ridge Sacral dimple Ventriculomegaly Cerebellar hypoplasia Proptosis Renal hypoplasia Edema Cerebellar atrophy Short ribs CNS hypomyelination Muscular hypotonia of the trunk Progressive microcephaly Prominent nose Deep palmar crease Median cleft lip Severe intrauterine growth retardation Abnormality of digit Downturned corners of mouth Short chin Tetralogy of Fallot Hypoplasia of the brainstem Narrow chest Nevus flammeus of the forehead Thoracic scoliosis Poor head control Progressive encephalopathy Hypoplasia of the pons Microcephaly Decreased head circumference Pontocerebellar atrophy Elbow flexion contracture Long palpebral fissure Full cheeks Aplasia/Hypoplasia of the ribs Ataxia Malar rash Polydactyly Micropenis Spasticity Macrodontia Cleft lip Colpocephaly Clubbing of fingers Gait ataxia Prolonged partial thromboplastin time Periorbital fullness Phimosis Periventricular gray matter heterotopia Abnormality of the mitochondrion Prolonged prothrombin time Long hallux Spinal deformities Expressive language delay Obesity Hyperkeratosis Joint laxity Dysostosis multiplex Hypermetropia Dysmetria Polymicrogyria Thick vermilion border Wide intermamillary distance Short palpebral fissure Heterotopia Talipes calcaneovalgus Gynecomastia Plagiocephaly Infantile muscular hypotonia Hallux valgus Upper airway obstruction Episodic abdominal pain Bifid tongue Hepatosplenomegaly Partial duplication of thumb phalanx Short 2nd finger Short middle phalanx of the 2nd finger Central Y-shaped metacarpal Pain Cognitive impairment Hepatomegaly Splenomegaly Inguinal hernia Abdominal pain Coarse facial features Elevated hepatic transaminase Protuberant abdomen Attention deficit hyperactivity disorder Joint hypermobility Broad philtrum Memory impairment Hemivertebrae Low posterior hairline Hoarse voice Sleep apnea Hyperkinesis Cholelithiasis 2-3 toe syndactyly Thoracic hypoplasia Macroglossia Dermal atrophy Pointed chin Nasogastric tube feeding Dystonia Midface retrusion Osteopenia Deeply set eye Autistic behavior Thick lower lip vermilion Cerebral visual impairment Self-injurious behavior Delayed ability to walk Recurrent hand flapping Tented philtrum Sensorineural hearing impairment Cataract High forehead Abnormality of the liver Severe global developmental delay Abnormality of movement Retinal dystrophy Esotropia Abnormality of retinal pigmentation Decreased liver function Submucous cleft soft palate Broad eyebrow Bilateral single transverse palmar creases Muscle weakness Tremor Aggressive behavior Blepharophimosis Inability to walk Waddling gait Narrow palate Narrow palpebral fissure Self-mutilation Hand tremor Kinetic tremor Skeletal muscle atrophy Neonatal hypoglycemia Dysphagia Depressivity Babinski sign Hypoglycemia Feeding difficulties in infancy Short philtrum Tented upper lip vermilion Dysphonia Spinal muscular atrophy Oral-pharyngeal dysphagia Wide anterior fontanel Abnormal palate morphology Broad-based gait Generalized hypertrichosis Aplasia/Hypoplasia of the skin Shawl scrotum Taurodontia Skin tags Absent nipple Gingival fibromatosis Sparse or absent eyelashes Breast aplasia Broad alveolar ridges Abnormality of female external genitalia Aplasia/Hypoplasia of the eyebrow Mild hearing impairment Frontal hirsutism Ablepharon Abnormality of male external genitalia Intrauterine growth retardation Downslanted palpebral fissures Posteriorly rotated ears Pes planus Postnatal growth retardation Abnormal cardiac septum morphology Long nose Cupped ear Adrenal insufficiency Ectodermal dysplasia Primary adrenal insufficiency Polar cataract Elevated long chain fatty acids Rigidity Conductive hearing impairment Microtia Dry skin Thin vermilion border Hirsutism Delayed eruption of teeth Abnormality of the skin Ectropion Microdontia Hypertrichosis Depressed nasal ridge Abnormality of the genital system Abnormality of the face Sparse and thin eyebrow Cutis laxa Hyperextensible skin Atresia of the external auditory canal Redundant skin Abnormality of the cerebral cortex


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Depressed nasal bridge and Premature birth, related diseases and genetic alterations Skeletal muscle atrophy and Rigidity, related diseases and genetic alterations Low-set ears and Iris coloboma, related diseases and genetic alterations Micrognathia and Short neck, related diseases and genetic alterations Hypertelorism and Arthrogryposis multiplex congenita, related diseases and genetic alterations Generalized hypotonia and Abnormal pyramidal sign, related diseases and genetic alterations