Hartsfield Syndrome

Description

Hartsfield syndrome is a rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by the association of variable degrees of holoprosencephaly and uni- or bilateral ectrodactyly of the hands and/or feet. Additional variable features, including facial dysmorphism (e.g. hypertelorism, short bulbous nose, long philtrum, dysplastic/low-set ears, cleft lip and palate, tented upper lip), other brain malformations (such as corpus callosum agenesis, absent septum pellucidum, absent olfactory bulbs/tracts, vermian hypoplasia), pituitary gland-related endocrine disorders (e.g. central diabetes insipidus, hypogonadotropic hypogonadism) and hypothalamic dysfunction, may be associated.

Clinical Features

Top most frequent phenotypes and symptoms related to Hartsfield Syndrome

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Ptosis
  • Low-set ears
  • Depressed nasal bridge

And another 47 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Hartsfield Syndrome Is also known as holoprosencephaly-ectrodactyly-cleft lip/palate syndrome, holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Hartsfield Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
FGFR1 DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

FGFR1
Specificity
100 %
Genes
100 %
Normosmic Kallmann/IHH Evaluation.

By Athena Diagnostics Inc (United States).

TACR3, PROKR2, PROK2, FGFR1, GNRH1, GNRHR, KISS1R
Specificity
15 %
Genes
100 %
Anosmic Kallmann/IHH Evaluation.

By Athena Diagnostics Inc (United States).

PROKR2, PROK2, FGF8, FGFR1, GNRHR, KISS1R, ANOS1
Specificity
15 %
Genes
100 %
Complete Kallmann/IHH Evaluation.

By Athena Diagnostics Inc (United States).

TACR3, PROKR2, PROK2, CHD7, FGF8, FGFR1, GNRH1, GNRHR, KISS1R, ANOS1
Specificity
10 %
Genes
100 %
Hearing Loss Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

BCS1L, ROR1, SALL1, SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, USH1C , (...)

View the complete list with 149 more genes
Specificity
1 %
Genes
100 %
NGS Craniosynostosis Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

TWIST1, RAB23, FGFR1, FGFR2, MSX2, POR, RECQL4
Specificity
15 %
Genes
100 %
FGFR1-Related Disorders - FGFR1 Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).

FGFR1
Specificity
100 %
Genes
100 %
FGFR1-Related Disorders - Del/Dup Analysis.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).

FGFR1
Specificity
100 %
Genes
100 %

We have 173 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

MESH OMIM ORPHANET Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB; HSAN2B EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD ATRIAL SEPTAL DEFECT 1; ASD1 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5; IBGC5 HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more