Hypertelorism, and Small hand

Diseases related with Hypertelorism and Small hand

In the following list you will find some of the most common rare diseases related to Hypertelorism and Small hand that can help you solving undiagnosed cases.

Top matches:

X-linked intellectual disability, Stocco Dos Santos type is characterised by severe intellectual deficit with hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections. Aggressive behaviour and frequent epileptic seizures may also be present. The syndrome has been described in four boys from the same family. Transmission is X-linked and is caused by mutations in the KIAA1202 gene, localised to the Xp11.2 region.

X-LINKED INTELLECTUAL DISABILITY, STOCCO DOS SANTOS TYPE Is also known as mental retardation, x-linked, stocco dos santos type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, STOCCO DOS SANTOS TYPE

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

NEDDFL is a neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability, poor growth with small head size, dysmorphic facial features, and mild abnormalities of the hands and feet (summary by Stankiewicz et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL

Other less relevant matches:

HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS Is also known as aqueductal stenosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS

Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.

MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME Is also known as syndromic moyamoya disease|moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism|chromosome xq28 deletion syndrome, 3.4-kb

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME

Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS; see this term), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about PFEIFFER SYNDROME TYPE 2

Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS; see this term), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Hypertelorism
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about PFEIFFER SYNDROME TYPE 3

Among the Yakuts, an Asian population isolate that is located in the northeastern part of Siberia, Maksimova et al. (2010) ascertained a short stature syndrome involving autosomal recessive postnatal growth failure, small hands and feet, loss of visual acuity with abnormalities of color vision, abnormal nuclear shape in neutrophil granulocytes (Pelger-Huet anomaly; see {169400}), and normal intelligence.

SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME Is also known as soph syndrome

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME

An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet.

AUTOSOMAL RECESSIVE KENNY-CAFFEY SYNDROME Is also known as kcs|kenny-caffey syndrome, autosomal recessive

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE KENNY-CAFFEY SYNDROME

Familial lambdoid synostosis is a rare, genetic cranial malformation characterized by unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge, compensatory contralateral parietal and frontal bossing, displacement of one ear, lateral deviation of jaw and compensatory deformation of cervical spine while bilateral cases usually manifest with flat and widened occiput, displacement of both ears and frequent occurrence of raised intracranial pressure.

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Muscular hypotonia
  • Spasticity
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL LAMBDOID SYNOSTOSIS

Top 5 symptoms//phenotypes associated to Hypertelorism and Small hand

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertelorism and Small hand. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Increased intracranial pressure Short foot Low-set ears Proptosis Epicanthus Depressed nasal bridge Strabismus Muscular hypotonia Aqueductal stenosis Retrognathia Finger syndactyly Short nose Short neck Hydrocephalus Growth delay High palate Intellectual disability, severe

Rare Symptoms - Less than 30% cases

Anal atresia Postnatal growth retardation Midface retrusion Hypertonia Broad hallux phalanx Short hallux Macrocephaly Tracheomalacia Laryngomalacia Long philtrum Facial asymmetry Delayed skeletal maturation Hypermetropia Arnold-Chiari malformation Cleft palate Broad thumb Respiratory distress Choanal atresia Malar flattening Intestinal malrotation Limitation of joint mobility High forehead Toe syndactyly Sandal gap Spasticity Hallux varus Myopia Microretrognathia Cataract Intrauterine growth retardation Delayed speech and language development Abnormal facial shape Scoliosis Hydronephrosis Syndactyly Blepharophimosis Brachyturricephaly Generalized hypotonia Brachydactyly Optic atrophy Blindness Craniosynostosis Horseshoe kidney Brachycephaly Reduced visual acuity Protruding ear Telecanthus Micromelia Long face Thin vermilion border Stenosis of the external auditory canal Amblyopia Prominent scalp veins Anterior plagiocephaly Ectopic posterior pituitary Craniofacial dysostosis Lambdoidal craniosynostosis Dimple chin Round ear Stomatocytosis Arnold-Chiari type I malformation Downturned corners of mouth Diminished ability to concentrate External ear malformation Vesicoureteral reflux Flat occiput Pansynostosis Optic nerve hypoplasia Plagiocephaly Thick eyebrow Thin long bone diaphyses Single transverse palmar crease Decreased skull ossification Slender long bone Hearing impairment Thin ribs Proportionate short stature Hypoparathyroidism Severe postnatal growth retardation Hypomagnesemia Tetany Recurrent bacterial infections Delayed closure of the anterior fontanelle Generalized tonic seizures Long clavicles Hypocalcemic seizures Hypocalcemic tetany Birth length less than 3rd percentile Thin clavicles Cortical thickening of long bone diaphyses Delayed cranial suture closure Hypocalcemia Progressive visual loss Blue cone monochromacy Congenital hypoparathyroidism Prominent forehead Fine hair Cutis laxa Dyschromatopsia Achromatopsia Prominent glabella Anteverted nares Hyposegmentation of neutrophil nuclei Full cheeks Nonprogressive visual loss Failure to thrive Frontal bossing Anemia Calvarial osteosclerosis Carious teeth Short palm Stenosis of the medullary cavity of the long bones Narrow forehead Broad finger Deviation of the thumb Pes planus Abnormality of bone mineral density Cat cry Micrognathia Abnormality of the skeletal system Clinodactyly Upslanted palpebral fissure Narrow mouth Thin upper lip vermilion Abnormality of the voice Abnormality of the cerebral white matter Broad nasal tip Prominent nose Underdeveloped nasal alae Short palpebral fissure Postnatal microcephaly Overlapping toe Broad hallux High pitched voice Preauricular skin tag Nystagmus Intellectual disability, profound Pain Talipes equinovarus Kyphosis Absent speech Hyperactivity Gastroesophageal reflux Hip dislocation Hirsutism Bruxism Round face Wide nasal bridge Downslanted palpebral fissures Abnormality of cardiovascular system morphology Inguinal hernia Low-set, posteriorly rotated ears Severe global developmental delay Joint hyperflexibility Recurrent fractures Slender finger Cryptorchidism Cloverleaf skull Cerebral hemorrhage Stroke Dilated cardiomyopathy Wide nose Growth hormone deficiency Decreased testicular size Short phalanx of finger Hypergonadotropic hypogonadism Azoospermia Premature graying of hair Hypogonadism Stroke-like episode Abnormal left ventricle morphology Congenital ptosis Abnormality of the nares Abnormal hand morphology Moyamoya phenomenon Visual loss Atresia of the external auditory canal Deeply set eye Congestive heart failure Hyperreflexia Adducted thumb Hyporeflexia Babinski sign Agenesis of corpus callosum Micropenis Coarse facial features Joint stiffness Spastic paraplegia Holoprosencephaly Bilateral cryptorchidism Cardiomyopathy Hemiplegia/hemiparesis Absent septum pellucidum Visceromegaly Oxycephaly Esodeviation Flexion contracture of thumb Ptosis Hypertension Posterior plagiocephaly


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Macrocephaly and Generalized myoclonic seizures, related diseases and genetic alterations Depressed nasal bridge and Astigmatism, related diseases and genetic alterations Edema and Neuronal loss in central nervous system, related diseases and genetic alterations Ptosis and Ectodermal dysplasia, related diseases and genetic alterations Obesity and Amenorrhea, related diseases and genetic alterations Ataxia and Hyporeflexia, related diseases and genetic alterations