High palate, and Round face

Diseases related with High palate and Round face

In the following list you will find some of the most common rare diseases related to High palate and Round face that can help you solving undiagnosed cases.


Top matches:

High match IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2; ICF2


Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disorder characterized by facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation. Laboratory studies of patient cells show hypomethylation of satellite regions of chromosomes 1, 9, and 16, as well as pericentromeric chromosomal instability in response to phytohemagglutinin stimulation (summary by de Greef et al., 2011).For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2; ICF2

High match MONOSOMY 5P


Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.

MONOSOMY 5P Is also known as cri du chat syndrome|deletion 5p

Related symptoms:

  • Short stature
  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MONOSOMY 5P

High match 6Q16 DELETION SYNDROME


Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.

6Q16 DELETION SYNDROME Is also known as del(6)(q16)|prader-willi-like syndrome due to deletion 6q16|monosomy 6q16

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 6Q16 DELETION SYNDROME

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Other less relevant matches:

High match PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER); PBD10A


Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 12 (CG12, equivalent to CGG) have mutations in the PEX3 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER); PBD10A

High match CRISPONI/COLD-INDUCED SWEATING SYNDROME 2; CISS2


Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., 2010).For a discussion of genetic heterogeneity of Crisponi/cold-induced sweating syndrome, see CISS1 (OMIM ).

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Pain
  • Low-set ears


SOURCES: OMIM MESH MENDELIAN

More info about CRISPONI/COLD-INDUCED SWEATING SYNDROME 2; CISS2

High match DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES; DIDOD


DIDOD is a disorder characterized by global developmental delay apparent from infancy, intellectual disability or learning difficulties, behavioral abnormalities, dysmorphic features, and obesity. The severity of the phenotype and additional features are variable (summary by Jansen et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES; DIDOD

High match BETHLEM MYOPATHY


Bethlem myopathy is a benign autosomal dominant form of slowly progressive muscular dystrophy.

BETHLEM MYOPATHY Is also known as ullrich scleroatonic muscular dystrophy|benign autosomal dominant myopathy|ullrich disease|ullrich congenital muscular dystrophy|muscular dystrophy, scleroatonic|ucmd

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about BETHLEM MYOPATHY

High match DYSOSTEOSCLEROSIS


Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DYSOSTEOSCLEROSIS

High match FRAGILE X SYNDROME


Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features.

FRAGILE X SYNDROME Is also known as marker x syndrome|fraxa syndrome|martin-bell syndrome|mental retardation, x-linked, associated with marxq28|fragile x mental retardation syndrome|frax syndrome|fxs|x-linked mental retardation and macroorchidism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about FRAGILE X SYNDROME

Top 5 symptoms//phenotypes associated to High palate and Round face

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Epicanthus Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with High palate and Round face. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Feeding difficulties Muscular hypotonia Scoliosis Short stature Low-set ears Global developmental delay Strabismus Macrocephaly Obesity Macrotia Seizures High forehead Motor delay Nystagmus Protruding ear Anteverted nares

Rare Symptoms - Less than 30% cases


Facial palsy Frontal bossing Delayed speech and language development Joint hypermobility Attention deficit hyperactivity disorder Autism Aggressive behavior Autistic behavior Tapered finger Full cheeks Polyphagia Anxiety Hyperactivity Joint laxity Kyphoscoliosis Ventricular septal defect Atrial septal defect Muscle weakness Thick vermilion border Syndactyly Neonatal hypotonia Clinodactyly Feeding difficulties in infancy Hyperhidrosis Long philtrum Flexion contracture Severe global developmental delay Microcephaly Abnormality of cardiovascular system morphology Recurrent fractures Intellectual disability, severe Depressed nasal bridge Growth delay Downslanted palpebral fissures Microretrognathia Short nose Aplasia/Hypoplasia of the skin Flared metaphysis Macular atrophy Increased susceptibility to fractures Dermal atrophy Oligodontia Folate-dependent fragile site at Xq28 Natal tooth Increased size of the mandible Disproportionate short stature Relative macrocephaly Thin ribs Oppositional defiant disorder Short sternum Delayed closure of the anterior fontanelle Craniofacial hyperostosis Broad ribs Facial paralysis Osteopetrosis Abnormal cranial nerve morphology Proportionate short stature Encopresis Finger joint hypermobility Obstructive sleep apnea Macroorchidism, postpubertal Irregular vertebral endplates Premature loss of teeth Abnormality of dental enamel Delayed eruption of teeth Short ribs Increased laxity of ankles Ankle contracture Progressive proximal muscle weakness Recurrent lower respiratory tract infections Proximal amyotrophy Follicular hyperkeratosis Type 1 muscle fiber predominance Slender build Muscle fiber necrosis Nocturnal hypoventilation Impaired mastication Hyperextensibility at wrists Increased laxity of fingers Hearing impairment Increased bone mineral density Optic atrophy Blindness Abnormality of the dentition Congenital macroorchidism Prominent forehead Osteopenia Skeletal dysplasia Developmental regression Platyspondyly Narrow chest Diaphyseal thickening Cerebral calcification Abnormality of the metaphysis Broad femoral neck Abducens palsy Narrow iliac wings Long face Mandibular prognathia Gastroesophageal reflux Coarse facial features Pes planus Enuresis Intellectual disability, moderate Wide mouth Neurological speech impairment Large forehead Facial asymmetry Macroorchidism Poor eye contact Postural instability Pectus excavatum Broad palm Abnormality of neuronal migration Otitis media Overgrowth Mitral valve prolapse Heterotopia Large hands Hyperpigmentation of the skin Self-injurious behavior Sinusitis Narrow face Chronic otitis media Premature ovarian insufficiency Cerebral cortical atrophy Depressivity Sclerosis of skull base Periventricular gray matter heterotopia Vertebral hypoplasia Hyperkinesis Hypoplastic vertebral bodies Rough bone trabeculation Absent frontal sinuses Delayed eruption of primary teeth Parietal bossing Cranial nerve compression Optic nerve compression Absent paranasal sinuses Short diaphyses Clavicular sclerosis Abnormal metaphyseal trabeculation Sclerotic scapulae Absent speech Abnormal head movements Sclerosis of hand bone Increased intervertebral space Shyness Progressive bowing of long bones Irregular dentition Mood swings Ascending tubular aorta aneurysm Hyperextensibility of the finger joints Cognitive impairment Difficulty climbing stairs Dilatation Midface retrusion Spinal rigidity Respiratory insufficiency Generalized amyotrophy Secundum atrial septal defect Short foot Narrow nose Misalignment of teeth Cataract Hepatomegaly Congestive heart failure Areflexia Broad forehead Pulmonic stenosis Prominent nose Decreased fetal movement Epiphyseal stippling Perimembranous ventricular septal defect Bulbous nose Right aortic arch Generalized neonatal hypotonia Pain Peripheral neuropathy Carcinoma Apnea Camptodactyly Hyperlordosis Carious teeth Abnormality of the foot Lumbar hyperlordosis Sensorimotor neuropathy Elbow flexion contracture Short palm Prominent nasal bridge Poor suck Intrauterine growth retardation Abnormal facial shape Immunodeficiency Recurrent infections Pneumonia Recurrent respiratory infections Retrognathia Respiratory tract infection Everted lower lip vermilion Decreased antibody level in blood Short chin Agammaglobulinemia Chronic bronchitis Wide nasal bridge Short neck EEG abnormality Inguinal hernia Low-set, posteriorly rotated ears Finger syndactyly Joint hyperflexibility Small hand Preauricular skin tag Abnormality of the voice High pitched voice Abnormality of bone mineral density Cat cry Myopia Clinodactyly of the 5th finger Brachycephaly Abnormal autonomic nervous system physiology Scaling skin Mildly elevated creatine phosphokinase Muscular dystrophy Failure to thrive Talipes equinovarus Myopathy Kyphosis Respiratory failure Hyperkeratosis Rigidity Proximal muscle weakness Joint stiffness Scarring Camptodactyly of finger Hip dislocation Generalized muscle weakness Long toe Growth hormone deficiency Pachygyria EMG abnormality Congenital hip dislocation Lissencephaly Torticollis Respiratory insufficiency due to muscle weakness Cachexia Abnormality of mitochondrial metabolism Limb-girdle muscular dystrophy Congenital muscular dystrophy Increased variability in muscle fiber diameter Multiple joint contractures Horizontal eyebrow Cavum septum pellucidum Cubitus valgus Upslanted palpebral fissure Radial deviation of finger 2-3 toe syndactyly Opisthotonus Limited elbow extension Renal cell carcinoma Thoracolumbar scoliosis Trismus Excessive salivation Unexplained fevers Cold-induced sweating Cryptorchidism Ptosis Behavioral abnormality Deeply set eye Impulsivity Blepharophimosis Short philtrum Hypermetropia Synophrys Thin vermilion border Thick eyebrow Broad-based gait Stereotypy Insulin resistance Cafe-au-lait spot Delayed gross motor development Easy fatigability Polycystic ovaries Severe temper tantrums



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Metabolic acidosis, related diseases and genetic alterations Macrocephaly and Pectus excavatum, related diseases and genetic alterations Lymphoma and Congenital diaphragmatic hernia, related diseases and genetic alterations

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